SNP Links for Gene (Select 2746) - SNP

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Select item 14915595631.

rs1491559563 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 10:87083816 (GRCh38)
10:88843573 (GRCh37)
Canonical SPDI:: NC_000010.11:87083815:TA:
Gene:: GLUD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000019/1 (GnomAD)
HGVS:: NC_000010.11:g.87083816_87083817del, NC_000010.10:g.88843573_88843574del, NG_013010.1:g.16203_16204del

Select item 14915517642.

rs1491551764 has merged into rs67900135 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 10:87063069 (GRCh38)
10:88822826 (GRCh37)
Canonical SPDI:: NC_000010.11:87063067:TGT:T
Gene:: GLUD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.211431/2508 (ALFA)
-=0.096939/57 (NorthernSweden)
-=0.1/4 (GENOME_DK)
-=0.165571/18038 (GnomAD)
TG=0.413655/6865 (TOMMO)
HGVS:: NC_000010.11:g.87063069_87063070del, NC_000010.10:g.88822826_88822827del, NG_013010.1:g.36951_36952del

Select item 14915505023.

rs1491550502 has merged into rs10535860 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC [Show Flanks]
Chromosome:: 10:87083829 (GRCh38)
10:88843586 (GRCh37)
Canonical SPDI:: NC_000010.11:87083816:ACACACACACACACACACACAC:ACACACACACAC,NC_000010.11:87083816:ACACACACACACACACACACAC:ACACACACACACAC,NC_000010.11:87083816:ACACACACACACACACACACAC:ACACACACACACACAC,NC_000010.11:87083816:ACACACACACACACACACACAC:ACACACACACACACACAC,NC_000010.11:87083816:ACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000010.11:87083816:ACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000010.11:87083816:ACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000010.11:87083816:ACACACACACACACACACACAC:ACACACACACACACACACACACACACAC
Gene:: GLUD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACAC=0./0 (ALFA)
-=0.3269/1260 (ALSPAC)
HGVS:: NC_000010.11:g.87083817AC[6], NC_000010.11:g.87083817AC[7], NC_000010.11:g.87083817AC[8], NC_000010.11:g.87083817AC[9], NC_000010.11:g.87083817AC[10], NC_000010.11:g.87083817AC[12], NC_000010.11:g.87083817AC[13], NC_000010.11:g.87083817AC[14], NC_000010.10:g.88843574AC[6], NC_000010.10:g.88843574AC[7], NC_000010.10:g.88843574AC[8], NC_000010.10:g.88843574AC[9], NC_000010.10:g.88843574AC[10], NC_000010.10:g.88843574AC[12], NC_000010.10:g.88843574AC[13], NC_000010.10:g.88843574AC[14], NG_013010.1:g.16182GT[6], NG_013010.1:g.16182GT[7], NG_013010.1:g.16182GT[8], NG_013010.1:g.16182GT[9], NG_013010.1:g.16182GT[10], NG_013010.1:g.16182GT[12], NG_013010.1:g.16182GT[13], NG_013010.1:g.16182GT[14]

Select item 14914800534.

rs1491480053 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:87061211 (GRCh38)
10:88820968 (GRCh37)
Canonical SPDI:: NC_000010.11:87061209:ACA:A
Gene:: GLUD1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000010.11:g.87061211_87061212del, NC_000010.10:g.88820968_88820969del, NG_013010.1:g.38809_38810del

Select item 14914446275.

rs1491444627 has merged into rs59540767 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:87065281 (GRCh38)
10:88825038 (GRCh37)
Canonical SPDI:: NC_000010.11:87065272:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000010.11:87065272:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:87065272:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:87065272:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:87065272:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:87065272:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:87065272:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:87065272:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:87065272:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:87065272:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:87065272:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:87065272:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:87065272:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:87065272:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:87065272:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:87065272:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:87065272:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:87065272:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:87065272:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:87065272:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:87065272:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:87065272:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:87065272:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:87065272:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GLUD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.1546/774 (1000Genomes)
-=0.175/7 (GENOME_DK)
HGVS:: NC_000010.11:g.87065281_87065299del, NC_000010.11:g.87065284_87065299del, NC_000010.11:g.87065285_87065299del, NC_000010.11:g.87065286_87065299del, NC_000010.11:g.87065288_87065299del, NC_000010.11:g.87065289_87065299del, NC_000010.11:g.87065290_87065299del, NC_000010.11:g.87065291_87065299del, NC_000010.11:g.87065292_87065299del, NC_000010.11:g.87065293_87065299del, NC_000010.11:g.87065294_87065299del, NC_000010.11:g.87065295_87065299del, NC_000010.11:g.87065296_87065299del, NC_000010.11:g.87065297_87065299del, NC_000010.11:g.87065298_87065299del, NC_000010.11:g.87065299del, NC_000010.11:g.87065299dup, NC_000010.11:g.87065298_87065299dup, NC_000010.11:g.87065297_87065299dup, NC_000010.11:g.87065296_87065299dup, NC_000010.11:g.87065295_87065299dup, NC_000010.11:g.87065294_87065299dup, NC_000010.11:g.87065293_87065299dup, NC_000010.11:g.87065292_87065299dup, NC_000010.10:g.88825038_88825056del, NC_000010.10:g.88825041_88825056del, NC_000010.10:g.88825042_88825056del, NC_000010.10:g.88825043_88825056del, NC_000010.10:g.88825045_88825056del, NC_000010.10:g.88825046_88825056del, NC_000010.10:g.88825047_88825056del, NC_000010.10:g.88825048_88825056del, NC_000010.10:g.88825049_88825056del, NC_000010.10:g.88825050_88825056del, NC_000010.10:g.88825051_88825056del, NC_000010.10:g.88825052_88825056del, NC_000010.10:g.88825053_88825056del, NC_000010.10:g.88825054_88825056del, NC_000010.10:g.88825055_88825056del, NC_000010.10:g.88825056del, NC_000010.10:g.88825056dup, NC_000010.10:g.88825055_88825056dup, NC_000010.10:g.88825054_88825056dup, NC_000010.10:g.88825053_88825056dup, NC_000010.10:g.88825052_88825056dup, NC_000010.10:g.88825051_88825056dup, NC_000010.10:g.88825050_88825056dup, NC_000010.10:g.88825049_88825056dup, NG_013010.1:g.34729_34747del, NG_013010.1:g.34732_34747del, NG_013010.1:g.34733_34747del, NG_013010.1:g.34734_34747del, NG_013010.1:g.34736_34747del, NG_013010.1:g.34737_34747del, NG_013010.1:g.34738_34747del, NG_013010.1:g.34739_34747del, NG_013010.1:g.34740_34747del, NG_013010.1:g.34741_34747del, NG_013010.1:g.34742_34747del, NG_013010.1:g.34743_34747del, NG_013010.1:g.34744_34747del, NG_013010.1:g.34745_34747del, NG_013010.1:g.34746_34747del, NG_013010.1:g.34747del, NG_013010.1:g.34747dup, NG_013010.1:g.34746_34747dup, NG_013010.1:g.34745_34747dup, NG_013010.1:g.34744_34747dup, NG_013010.1:g.34743_34747dup, NG_013010.1:g.34742_34747dup, NG_013010.1:g.34741_34747dup, NG_013010.1:g.34740_34747dup

Select item 14913076636.

rs1491307663 [Homo sapiens]

Variant type:: INS
Alleles:: ->ATTGGTAT [Show Flanks]
Chromosome:: 10:87061210 (GRCh38)
10:88820968 (GRCh37)
Canonical SPDI:: NC_000010.11:87061210::ATTGGTAT
Gene:: GLUD1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000010.11:g.87061210_87061211insATTGGTAT, NC_000010.10:g.88820967_88820968insATTGGTAT, NG_013010.1:g.38809_38810insATACCAAT

Select item 14911908347.

rs1491190834 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:87065272 (GRCh38)
10:88825029 (GRCh37)
Canonical SPDI:: NC_000010.11:87065271:CA:
Gene:: GLUD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000010.11:g.87065272_87065273del, NC_000010.10:g.88825029_88825030del, NG_013010.1:g.34747_34748del

Select item 14911747778.

rs1491174777 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:87052669 (GRCh38)
10:88812426 (GRCh37)
Canonical SPDI:: NC_000010.11:87052668:CA:
Gene:: GLUD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.0005/8 (GnomAD)
HGVS:: NC_000010.11:g.87052669_87052670del, NC_000010.10:g.88812426_88812427del, NG_013010.1:g.47350_47351del

Select item 14910747049.

rs1491074704 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 10:87066371 (GRCh38)
10:88826129 (GRCh37)
Canonical SPDI:: NC_000010.11:87066371:TTTT:TTTTT
Gene:: GLUD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.87066375dup, NC_000010.10:g.88826132dup, NG_013010.1:g.33648dup

Select item 149090194910.

rs1490901949 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:87079644 (GRCh38)
10:88839401 (GRCh37)
Canonical SPDI:: NC_000010.11:87079643:G:A
Gene:: GLUD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000010.11:g.87079644G>A, NC_000010.10:g.88839401G>A, NG_013010.1:g.20376C>T

Select item 149082969711.

rs1490829697 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 10:87066012 (GRCh38)
10:88825769 (GRCh37)
Canonical SPDI:: NC_000010.11:87066011:C:
Gene:: GLUD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.87066012del, NC_000010.10:g.88825769del, NG_013010.1:g.34008del

Select item 149081699712.

rs1490816997 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTT [Show Flanks]
Chromosome:: 10:87062634 (GRCh38)
10:88822392 (GRCh37)
Canonical SPDI:: NC_000010.11:87062634:TTTTTTT:TTTTTTTTTT
Gene:: GLUD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: TTT=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.87062639_87062641dup, NC_000010.10:g.88822396_88822398dup, NG_013010.1:g.37383_37385dup

Select item 149074514813.

rs1490745148 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,G [Show Flanks]
Chromosome:: 10:87088185 (GRCh38)
10:88847943 (GRCh37)
Canonical SPDI:: NC_000010.11:87088185::C,NC_000010.11:87088185::G
Gene:: GLUD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000010.11:g.87088185_87088186insC, NC_000010.11:g.87088185_87088186insG, NC_000010.10:g.88847942_88847943insC, NC_000010.10:g.88847942_88847943insG, NG_013010.1:g.11834_11835insG, NG_013010.1:g.11834_11835insC

Select item 149066433714.

rs1490664337 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:87065429 (GRCh38)
10:88825186 (GRCh37)
Canonical SPDI:: NC_000010.11:87065428:A:T
Gene:: GLUD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.87065429A>T, NC_000010.10:g.88825186A>T, NG_013010.1:g.34591T>A

Select item 149061321115.

rs1490613211 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:87063140 (GRCh38)
10:88822897 (GRCh37)
Canonical SPDI:: NC_000010.11:87063139:C:A
Gene:: GLUD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.87063140C>A, NC_000010.10:g.88822897C>A, NG_013010.1:g.36880G>T

Select item 149041059616.

rs1490410596 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:87080149 (GRCh38)
10:88839906 (GRCh37)
Canonical SPDI:: NC_000010.11:87080148:G:A
Gene:: GLUD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.87080149G>A, NC_000010.10:g.88839906G>A, NG_013010.1:g.19871C>T

Select item 149040908017.

rs1490409080 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:87066504 (GRCh38)
10:88826261 (GRCh37)
Canonical SPDI:: NC_000010.11:87066503:T:C
Gene:: GLUD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.87066504T>C, NC_000010.10:g.88826261T>C, NG_013010.1:g.33516A>G

Select item 149031682018.

rs1490316820 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:87095391 (GRCh38)
10:88855148 (GRCh37)
Canonical SPDI:: NC_000010.11:87095390:G:A
Gene:: GLUD1 (Varview), SHLD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.87095391G>A, NC_000010.10:g.88855148G>A, NG_013010.1:g.4629C>T

Select item 149030292619.

rs1490302926 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:87080759 (GRCh38)
10:88840516 (GRCh37)
Canonical SPDI:: NC_000010.11:87080758:G:A
Gene:: GLUD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00017/2 (ALFA)
A=0.00018/3 (TOMMO)
HGVS:: NC_000010.11:g.87080759G>A, NC_000010.10:g.88840516G>A, NG_013010.1:g.19261C>T

Select item 149023983020.

rs1490239830 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:87066021 (GRCh38)
10:88825778 (GRCh37)
Canonical SPDI:: NC_000010.11:87066020:G:T
Gene:: GLUD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.87066021G>T, NC_000010.10:g.88825778G>T, NG_013010.1:g.33999C>A

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