SNP Links for Gene (Select 6506) - SNP

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Select item 14915210681.

rs1491521068 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 11:35311896 (GRCh38)
11:35333444 (GRCh37)
Canonical SPDI:: NC_000011.10:35311896::A
Gene:: SLC1A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.00541/9 (Korea1K)
A=0.00843/113 (TOMMO)
A=0.01122/635 (GnomAD)
HGVS:: NC_000011.10:g.35311896_35311897insA, NC_000011.9:g.35333443_35333444insA, NG_008727.2:g.112662_112663insT

Select item 14915010722.

rs1491501072 has merged into rs34058137 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 11:35355903 (GRCh38)
11:35377450 (GRCh37)
Canonical SPDI:: NC_000011.10:35355889:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:35355889:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:35355889:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:35355889:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:35355889:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:35355889:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:35355889:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:35355889:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: SLC1A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000011.10:g.35355903_35355908del, NC_000011.10:g.35355904_35355908del, NC_000011.10:g.35355905_35355908del, NC_000011.10:g.35355906_35355908del, NC_000011.10:g.35355907_35355908del, NC_000011.10:g.35355908del, NC_000011.10:g.35355908dup, NC_000011.10:g.35355907_35355908dup, NC_000011.9:g.35377450_35377455del, NC_000011.9:g.35377451_35377455del, NC_000011.9:g.35377452_35377455del, NC_000011.9:g.35377453_35377455del, NC_000011.9:g.35377454_35377455del, NC_000011.9:g.35377455del, NC_000011.9:g.35377455dup, NC_000011.9:g.35377454_35377455dup, NG_008727.2:g.68664_68669del, NG_008727.2:g.68665_68669del, NG_008727.2:g.68666_68669del, NG_008727.2:g.68667_68669del, NG_008727.2:g.68668_68669del, NG_008727.2:g.68669del, NG_008727.2:g.68669dup, NG_008727.2:g.68668_68669dup

Select item 14913692173.

rs1491369217 has merged into rs1213084635 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAGAGAG>-,AG,AGAG,AGAGAG,AGAGAGAGAG,AGAGAGAGAGAG,AGAGAGAGAGAGAG,AGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG [Show Flanks]
Chromosome:: 11:35311915 (GRCh38)
11:35333462 (GRCh37)
Canonical SPDI:: NC_000011.10:35311897:GAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAG,NC_000011.10:35311897:GAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAG,NC_000011.10:35311897:GAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAG,NC_000011.10:35311897:GAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAG,NC_000011.10:35311897:GAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000011.10:35311897:GAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000011.10:35311897:GAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000011.10:35311897:GAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000011.10:35311897:GAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000011.10:35311897:GAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000011.10:35311897:GAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000011.10:35311897:GAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000011.10:35311897:GAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000011.10:35311897:GAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000011.10:35311897:GAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000011.10:35311897:GAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000011.10:35311897:GAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000011.10:35311897:GAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000011.10:35311897:GAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG
Gene:: SLC1A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGAGAGAGAGAGAGAG=0./0 (ALFA)
HGVS:: NC_000011.10:g.35311899AG[8], NC_000011.10:g.35311899AG[9], NC_000011.10:g.35311899AG[10], NC_000011.10:g.35311899AG[11], NC_000011.10:g.35311899AG[13], NC_000011.10:g.35311899AG[14], NC_000011.10:g.35311899AG[15], NC_000011.10:g.35311899AG[16], NC_000011.10:g.35311899AG[17], NC_000011.10:g.35311899AG[18], NC_000011.10:g.35311899AG[19], NC_000011.10:g.35311899AG[20], NC_000011.10:g.35311899AG[21], NC_000011.10:g.35311899AG[22], NC_000011.10:g.35311899AG[24], NC_000011.10:g.35311899AG[25], NC_000011.10:g.35311899AG[30], NC_000011.10:g.35311899AG[33], NC_000011.10:g.35311899AG[34], NC_000011.9:g.35333446AG[8], NC_000011.9:g.35333446AG[9], NC_000011.9:g.35333446AG[10], NC_000011.9:g.35333446AG[11], NC_000011.9:g.35333446AG[13], NC_000011.9:g.35333446AG[14], NC_000011.9:g.35333446AG[15], NC_000011.9:g.35333446AG[16], NC_000011.9:g.35333446AG[17], NC_000011.9:g.35333446AG[18], NC_000011.9:g.35333446AG[19], NC_000011.9:g.35333446AG[20], NC_000011.9:g.35333446AG[21], NC_000011.9:g.35333446AG[22], NC_000011.9:g.35333446AG[24], NC_000011.9:g.35333446AG[25], NC_000011.9:g.35333446AG[30], NC_000011.9:g.35333446AG[33], NC_000011.9:g.35333446AG[34], NG_008727.2:g.112638TC[8], NG_008727.2:g.112638TC[9], NG_008727.2:g.112638TC[10], NG_008727.2:g.112638TC[11], NG_008727.2:g.112638TC[13], NG_008727.2:g.112638TC[14], NG_008727.2:g.112638TC[15], NG_008727.2:g.112638TC[16], NG_008727.2:g.112638TC[17], NG_008727.2:g.112638TC[18], NG_008727.2:g.112638TC[19], NG_008727.2:g.112638TC[20], NG_008727.2:g.112638TC[21], NG_008727.2:g.112638TC[22], NG_008727.2:g.112638TC[24], NG_008727.2:g.112638TC[25], NG_008727.2:g.112638TC[30], NG_008727.2:g.112638TC[33], NG_008727.2:g.112638TC[34]

Select item 14913570154.

rs1491357015 has merged into rs373988431 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,TT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:35333836 (GRCh38)
11:35355383 (GRCh37)
Canonical SPDI:: NC_000011.10:35333827:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000011.10:35333827:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:35333827:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:35333827:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:35333827:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:35333827:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:35333827:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:35333827:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:35333827:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:35333827:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:35333827:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:35333827:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:35333827:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:35333827:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:35333827:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:35333827:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:35333827:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:35333827:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:35333827:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:35333827:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:35333827:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:35333827:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:35333827:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:35333827:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:35333827:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:35333827:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:35333827:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:35333827:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:35333827:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:35333827:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:35333827:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:35333827:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SLC1A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
TTTTTTTT=0.3329/1667 (1000Genomes)
HGVS:: NC_000011.10:g.35333836_35333850del, NC_000011.10:g.35333838_35333850del, NC_000011.10:g.35333841_35333850del, NC_000011.10:g.35333842_35333850del, NC_000011.10:g.35333843_35333850del, NC_000011.10:g.35333844_35333850del, NC_000011.10:g.35333845_35333850del, NC_000011.10:g.35333846_35333850del, NC_000011.10:g.35333847_35333850del, NC_000011.10:g.35333848_35333850del, NC_000011.10:g.35333849_35333850del, NC_000011.10:g.35333850del, NC_000011.10:g.35333850dup, NC_000011.10:g.35333849_35333850dup, NC_000011.10:g.35333848_35333850dup, NC_000011.10:g.35333847_35333850dup, NC_000011.10:g.35333846_35333850dup, NC_000011.10:g.35333845_35333850dup, NC_000011.10:g.35333844_35333850dup, NC_000011.10:g.35333843_35333850dup, NC_000011.10:g.35333842_35333850dup, NC_000011.10:g.35333841_35333850dup, NC_000011.10:g.35333840_35333850dup, NC_000011.10:g.35333839_35333850dup, NC_000011.10:g.35333838_35333850dup, NC_000011.10:g.35333837_35333850dup, NC_000011.10:g.35333836_35333850dup, NC_000011.10:g.35333835_35333850dup, NC_000011.10:g.35333834_35333850dup, NC_000011.10:g.35333833_35333850dup, NC_000011.10:g.35333832_35333850dup, NC_000011.10:g.35333850_35333851insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.35355383_35355397del, NC_000011.9:g.35355385_35355397del, NC_000011.9:g.35355388_35355397del, NC_000011.9:g.35355389_35355397del, NC_000011.9:g.35355390_35355397del, NC_000011.9:g.35355391_35355397del, NC_000011.9:g.35355392_35355397del, NC_000011.9:g.35355393_35355397del, NC_000011.9:g.35355394_35355397del, NC_000011.9:g.35355395_35355397del, NC_000011.9:g.35355396_35355397del, NC_000011.9:g.35355397del, NC_000011.9:g.35355397dup, NC_000011.9:g.35355396_35355397dup, NC_000011.9:g.35355395_35355397dup, NC_000011.9:g.35355394_35355397dup, NC_000011.9:g.35355393_35355397dup, NC_000011.9:g.35355392_35355397dup, NC_000011.9:g.35355391_35355397dup, NC_000011.9:g.35355390_35355397dup, NC_000011.9:g.35355389_35355397dup, NC_000011.9:g.35355388_35355397dup, NC_000011.9:g.35355387_35355397dup, NC_000011.9:g.35355386_35355397dup, NC_000011.9:g.35355385_35355397dup, NC_000011.9:g.35355384_35355397dup, NC_000011.9:g.35355383_35355397dup, NC_000011.9:g.35355382_35355397dup, NC_000011.9:g.35355381_35355397dup, NC_000011.9:g.35355380_35355397dup, NC_000011.9:g.35355379_35355397dup, NC_000011.9:g.35355397_35355398insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008727.2:g.90717_90731del, NG_008727.2:g.90719_90731del, NG_008727.2:g.90722_90731del, NG_008727.2:g.90723_90731del, NG_008727.2:g.90724_90731del, NG_008727.2:g.90725_90731del, NG_008727.2:g.90726_90731del, NG_008727.2:g.90727_90731del, NG_008727.2:g.90728_90731del, NG_008727.2:g.90729_90731del, NG_008727.2:g.90730_90731del, NG_008727.2:g.90731del, NG_008727.2:g.90731dup, NG_008727.2:g.90730_90731dup, NG_008727.2:g.90729_90731dup, NG_008727.2:g.90728_90731dup, NG_008727.2:g.90727_90731dup, NG_008727.2:g.90726_90731dup, NG_008727.2:g.90725_90731dup, NG_008727.2:g.90724_90731dup, NG_008727.2:g.90723_90731dup, NG_008727.2:g.90722_90731dup, NG_008727.2:g.90721_90731dup, NG_008727.2:g.90720_90731dup, NG_008727.2:g.90719_90731dup, NG_008727.2:g.90718_90731dup, NG_008727.2:g.90717_90731dup, NG_008727.2:g.90716_90731dup, NG_008727.2:g.90715_90731dup, NG_008727.2:g.90714_90731dup, NG_008727.2:g.90713_90731dup, NG_008727.2:g.90731_90732insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14913044445.

rs1491304444 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 11:35342524 (GRCh38)
11:35364071 (GRCh37)
Canonical SPDI:: NC_000011.10:35342522:TGT:T
Gene:: SLC1A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00017/2 (ALFA)
-=0.00139/25 (GnomAD)
HGVS:: NC_000011.10:g.35342524_35342525del, NC_000011.9:g.35364071_35364072del, NG_008727.2:g.82035_82036del

Select item 14913034466.

rs1491303446 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 11:35333827 (GRCh38)
11:35355374 (GRCh37)
Canonical SPDI:: NC_000011.10:35333826:AT:
Gene:: SLC1A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000011.10:g.35333827_35333828del, NC_000011.9:g.35355374_35355375del, NG_008727.2:g.90731_90732del

Select item 14912813197.

rs1491281319 has merged into rs60103066 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 11:35405432 (GRCh38)
11:35426979 (GRCh37)
Canonical SPDI:: NC_000011.10:35405418:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:35405418:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:35405418:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:35405418:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:35405418:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: SLC1A2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.0413/159 (ALSPAC)
T=0.4085/2046 (1000Genomes)
HGVS:: NC_000011.10:g.35405432_35405434del, NC_000011.10:g.35405433_35405434del, NC_000011.10:g.35405434del, NC_000011.10:g.35405434dup, NC_000011.10:g.35405433_35405434dup, NC_000011.9:g.35426979_35426981del, NC_000011.9:g.35426980_35426981del, NC_000011.9:g.35426981del, NC_000011.9:g.35426981dup, NC_000011.9:g.35426980_35426981dup, NG_008727.2:g.19138_19140del, NG_008727.2:g.19139_19140del, NG_008727.2:g.19140del, NG_008727.2:g.19140dup, NG_008727.2:g.19139_19140dup

Select item 14912484508.

rs1491248450 has merged into rs35055326 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 11:35265464 (GRCh38)
11:35287011 (GRCh37)
Canonical SPDI:: NC_000011.10:35265453:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:35265453:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:35265453:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:35265453:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:35265453:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:35265453:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:35265453:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: SLC1A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0.00057/6 (ALFA)
-=0.05253/161 (1000Genomes)
T=0.25/10 (GENOME_DK)
T=0.34783/208 (NorthernSweden)
HGVS:: NC_000011.10:g.35265464_35265466del, NC_000011.10:g.35265465_35265466del, NC_000011.10:g.35265466del, NC_000011.10:g.35265466dup, NC_000011.10:g.35265465_35265466dup, NC_000011.10:g.35265464_35265466dup, NC_000011.10:g.35265462_35265466dup, NC_000011.9:g.35287011_35287013del, NC_000011.9:g.35287012_35287013del, NC_000011.9:g.35287013del, NC_000011.9:g.35287013dup, NC_000011.9:g.35287012_35287013dup, NC_000011.9:g.35287011_35287013dup, NC_000011.9:g.35287009_35287013dup, NG_008727.2:g.159103_159105del, NG_008727.2:g.159104_159105del, NG_008727.2:g.159105del, NG_008727.2:g.159105dup, NG_008727.2:g.159104_159105dup, NG_008727.2:g.159103_159105dup, NG_008727.2:g.159101_159105dup

Select item 14912297899.

rs1491229789 has merged into rs34058137 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 11:35355903 (GRCh38)
11:35377450 (GRCh37)
Canonical SPDI:: NC_000011.10:35355889:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:35355889:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:35355889:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:35355889:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:35355889:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:35355889:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:35355889:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:35355889:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: SLC1A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000011.10:g.35355903_35355908del, NC_000011.10:g.35355904_35355908del, NC_000011.10:g.35355905_35355908del, NC_000011.10:g.35355906_35355908del, NC_000011.10:g.35355907_35355908del, NC_000011.10:g.35355908del, NC_000011.10:g.35355908dup, NC_000011.10:g.35355907_35355908dup, NC_000011.9:g.35377450_35377455del, NC_000011.9:g.35377451_35377455del, NC_000011.9:g.35377452_35377455del, NC_000011.9:g.35377453_35377455del, NC_000011.9:g.35377454_35377455del, NC_000011.9:g.35377455del, NC_000011.9:g.35377455dup, NC_000011.9:g.35377454_35377455dup, NG_008727.2:g.68664_68669del, NG_008727.2:g.68665_68669del, NG_008727.2:g.68666_68669del, NG_008727.2:g.68667_68669del, NG_008727.2:g.68668_68669del, NG_008727.2:g.68669del, NG_008727.2:g.68669dup, NG_008727.2:g.68668_68669dup

Select item 149119217710.

rs1491192177 has merged into rs397848938 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG [Show Flanks]
Chromosome:: 11:35311893 (GRCh38)
11:35333440 (GRCh37)
Canonical SPDI:: NC_000011.10:35311891:GGG:G,NC_000011.10:35311891:GGG:GG,NC_000011.10:35311891:GGG:GGGG
Gene:: SLC1A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.11533/1368 (ALFA)
-=0.25859/16733 (GnomAD)
-=0.28547/169 (NorthernSweden)
-=0.29889/4386 (TOMMO)
-=0.4706/1745 (TWINSUK)
-=0.47198/1819 (ALSPAC)
HGVS:: NC_000011.10:g.35311893_35311894del, NC_000011.10:g.35311894del, NC_000011.10:g.35311894dup, NC_000011.9:g.35333440_35333441del, NC_000011.9:g.35333441del, NC_000011.9:g.35333441dup, NG_008727.2:g.112666_112667del, NG_008727.2:g.112667del, NG_008727.2:g.112667dup

Select item 149108497811.

rs1491084978 has merged into rs34712517 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 11:35284559 (GRCh38)
11:35306106 (GRCh37)
Canonical SPDI:: NC_000011.10:35284543:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000011.10:35284543:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000011.10:35284543:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000011.10:35284543:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000011.10:35284543:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:35284543:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:35284543:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:35284543:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:35284543:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:35284543:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:35284543:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: SLC1A2 (Varview), SLC1A2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000011.10:g.35284545GT[7], NC_000011.10:g.35284545GT[8], NC_000011.10:g.35284545GT[9], NC_000011.10:g.35284545GT[10], NC_000011.10:g.35284545GT[11], NC_000011.10:g.35284545GT[13], NC_000011.10:g.35284545GT[14], NC_000011.10:g.35284545GT[15], NC_000011.10:g.35284545GT[16], NC_000011.10:g.35284545GT[17], NC_000011.10:g.35284545GT[18], NC_000011.9:g.35306092GT[7], NC_000011.9:g.35306092GT[8], NC_000011.9:g.35306092GT[9], NC_000011.9:g.35306092GT[10], NC_000011.9:g.35306092GT[11], NC_000011.9:g.35306092GT[13], NC_000011.9:g.35306092GT[14], NC_000011.9:g.35306092GT[15], NC_000011.9:g.35306092GT[16], NC_000011.9:g.35306092GT[17], NC_000011.9:g.35306092GT[18], NG_008727.2:g.139992CA[7], NG_008727.2:g.139992CA[8], NG_008727.2:g.139992CA[9], NG_008727.2:g.139992CA[10], NG_008727.2:g.139992CA[11], NG_008727.2:g.139992CA[13], NG_008727.2:g.139992CA[14], NG_008727.2:g.139992CA[15], NG_008727.2:g.139992CA[16], NG_008727.2:g.139992CA[17], NG_008727.2:g.139992CA[18]

Select item 149106624612.

rs1491066246 has merged into rs67984867 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 11:35387825 (GRCh38)
11:35409372 (GRCh37)
Canonical SPDI:: NC_000011.10:35387817:AAAAAAAAA:AAAAAAA,NC_000011.10:35387817:AAAAAAAAA:AAAAAAAA,NC_000011.10:35387817:AAAAAAAAA:AAAAAAAAAA,NC_000011.10:35387817:AAAAAAAAA:AAAAAAAAAAA
Gene:: SLC1A2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0.000323/4 (ALFA)
-=0.155942/601 (ALSPAC)
-=0.159385/591 (TWINSUK)
-=0.161812/42830 (TOPMED)
-=0.167335/167 (GoNL)
-=0.2/8 (GENOME_DK)
HGVS:: NC_000011.10:g.35387825_35387826del, NC_000011.10:g.35387826del, NC_000011.10:g.35387826dup, NC_000011.10:g.35387825_35387826dup, NC_000011.9:g.35409372_35409373del, NC_000011.9:g.35409373del, NC_000011.9:g.35409373dup, NC_000011.9:g.35409372_35409373dup, NG_008727.2:g.36740_36741del, NG_008727.2:g.36741del, NG_008727.2:g.36741dup, NG_008727.2:g.36740_36741dup

Select item 149106332613.

rs1491063326 has merged into rs35256511 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:35325973 (GRCh38)
11:35347520 (GRCh37)
Canonical SPDI:: NC_000011.10:35325964:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000011.10:35325964:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000011.10:35325964:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:35325964:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:35325964:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:35325964:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:35325964:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:35325964:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:35325964:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:35325964:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:35325964:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:35325964:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:35325964:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:35325964:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:35325964:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:35325964:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SLC1A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
AA=0.325/13 (GENOME_DK)
HGVS:: NC_000011.10:g.35325973_35325985del, NC_000011.10:g.35325974_35325985del, NC_000011.10:g.35325975_35325985del, NC_000011.10:g.35325976_35325985del, NC_000011.10:g.35325977_35325985del, NC_000011.10:g.35325978_35325985del, NC_000011.10:g.35325980_35325985del, NC_000011.10:g.35325981_35325985del, NC_000011.10:g.35325982_35325985del, NC_000011.10:g.35325983_35325985del, NC_000011.10:g.35325984_35325985del, NC_000011.10:g.35325985del, NC_000011.10:g.35325985dup, NC_000011.10:g.35325984_35325985dup, NC_000011.10:g.35325983_35325985dup, NC_000011.10:g.35325982_35325985dup, NC_000011.9:g.35347520_35347532del, NC_000011.9:g.35347521_35347532del, NC_000011.9:g.35347522_35347532del, NC_000011.9:g.35347523_35347532del, NC_000011.9:g.35347524_35347532del, NC_000011.9:g.35347525_35347532del, NC_000011.9:g.35347527_35347532del, NC_000011.9:g.35347528_35347532del, NC_000011.9:g.35347529_35347532del, NC_000011.9:g.35347530_35347532del, NC_000011.9:g.35347531_35347532del, NC_000011.9:g.35347532del, NC_000011.9:g.35347532dup, NC_000011.9:g.35347531_35347532dup, NC_000011.9:g.35347530_35347532dup, NC_000011.9:g.35347529_35347532dup, NG_008727.2:g.98582_98594del, NG_008727.2:g.98583_98594del, NG_008727.2:g.98584_98594del, NG_008727.2:g.98585_98594del, NG_008727.2:g.98586_98594del, NG_008727.2:g.98587_98594del, NG_008727.2:g.98589_98594del, NG_008727.2:g.98590_98594del, NG_008727.2:g.98591_98594del, NG_008727.2:g.98592_98594del, NG_008727.2:g.98593_98594del, NG_008727.2:g.98594del, NG_008727.2:g.98594dup, NG_008727.2:g.98593_98594dup, NG_008727.2:g.98592_98594dup, NG_008727.2:g.98591_98594dup

Select item 149103319714.

rs1491033197 has merged into rs144246892 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGAGA>-,GAGA,GAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGA [Show Flanks]
Chromosome:: 11:35293001 (GRCh38)
11:35314548 (GRCh37)
Canonical SPDI:: NC_000011.10:35292989:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGA,NC_000011.10:35292989:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000011.10:35292989:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA,NC_000011.10:35292989:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA,NC_000011.10:35292989:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGA,NC_000011.10:35292989:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGA,NC_000011.10:35292989:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000011.10:35292989:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA
Gene:: SLC1A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAGA=0./0 (ALFA)
AGAGAG=0.01532/4055 (TOPMED)
HGVS:: NC_000011.10:g.35292991GA[5], NC_000011.10:g.35292991GA[7], NC_000011.10:g.35292991GA[8], NC_000011.10:g.35292991GA[10], NC_000011.10:g.35292991GA[11], NC_000011.10:g.35292991GA[12], NC_000011.10:g.35292991GA[13], NC_000011.10:g.35292991GA[14], NC_000011.9:g.35314538GA[5], NC_000011.9:g.35314538GA[7], NC_000011.9:g.35314538GA[8], NC_000011.9:g.35314538GA[10], NC_000011.9:g.35314538GA[11], NC_000011.9:g.35314538GA[12], NC_000011.9:g.35314538GA[13], NC_000011.9:g.35314538GA[14], NG_008727.2:g.131552CT[5], NG_008727.2:g.131552CT[7], NG_008727.2:g.131552CT[8], NG_008727.2:g.131552CT[10], NG_008727.2:g.131552CT[11], NG_008727.2:g.131552CT[12], NG_008727.2:g.131552CT[13], NG_008727.2:g.131552CT[14]

Select item 149101441515.

rs1491014415 has merged into rs561948166 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:35420147 (GRCh38)
11:35441694 (GRCh37)
Canonical SPDI:: NC_000011.10:35420135:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:35420135:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:35420135:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:35420135:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:35420135:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:35420135:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:35420135:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:35420135:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:35420135:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:35420135:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:35420135:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SLC1A2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.35420147_35420153del, NC_000011.10:g.35420149_35420153del, NC_000011.10:g.35420150_35420153del, NC_000011.10:g.35420151_35420153del, NC_000011.10:g.35420152_35420153del, NC_000011.10:g.35420153del, NC_000011.10:g.35420153dup, NC_000011.10:g.35420152_35420153dup, NC_000011.10:g.35420151_35420153dup, NC_000011.10:g.35420150_35420153dup, NC_000011.10:g.35420146_35420153dup, NC_000011.9:g.35441694_35441700del, NC_000011.9:g.35441696_35441700del, NC_000011.9:g.35441697_35441700del, NC_000011.9:g.35441698_35441700del, NC_000011.9:g.35441699_35441700del, NC_000011.9:g.35441700del, NC_000011.9:g.35441700dup, NC_000011.9:g.35441699_35441700dup, NC_000011.9:g.35441698_35441700dup, NC_000011.9:g.35441697_35441700dup, NC_000011.9:g.35441693_35441700dup, NG_008727.2:g.4417_4423del, NG_008727.2:g.4419_4423del, NG_008727.2:g.4420_4423del, NG_008727.2:g.4421_4423del, NG_008727.2:g.4422_4423del, NG_008727.2:g.4423del, NG_008727.2:g.4423dup, NG_008727.2:g.4422_4423dup, NG_008727.2:g.4421_4423dup, NG_008727.2:g.4420_4423dup, NG_008727.2:g.4416_4423dup

Select item 149100236916.

rs1491002369 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:35347489 (GRCh38)
11:35369036 (GRCh37)
Canonical SPDI:: NC_000011.10:35347488:G:C
Gene:: SLC1A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.35347489G>C, NC_000011.9:g.35369036G>C, NG_008727.2:g.77070C>G

Select item 149098081517.

rs1490980815 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:35356212 (GRCh38)
11:35377759 (GRCh37)
Canonical SPDI:: NC_000011.10:35356211:G:A,NC_000011.10:35356211:G:C
Gene:: SLC1A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.35356212G>A, NC_000011.10:g.35356212G>C, NC_000011.9:g.35377759G>A, NC_000011.9:g.35377759G>C, NG_008727.2:g.68347C>T, NG_008727.2:g.68347C>G

Select item 149098004018.

rs1490980040 has merged into rs1220089326 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCTCT>-,CT,CTCT,CTCTCTCT,CTCTCTCTCT,CTCTCTCTCTCT [Show Flanks]
Chromosome:: 11:35299349 (GRCh38)
11:35320896 (GRCh37)
Canonical SPDI:: NC_000011.10:35299333:TCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCT,NC_000011.10:35299333:TCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT,NC_000011.10:35299333:TCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT,NC_000011.10:35299333:TCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT,NC_000011.10:35299333:TCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCT,NC_000011.10:35299333:TCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCT
Gene:: SLC1A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTCTCTCTCT=0./0 (ALFA)
TC=0.00014/2 (TOMMO)
TCTC=0.01003/6 (NorthernSweden)
HGVS:: NC_000011.10:g.35299335CT[7], NC_000011.10:g.35299335CT[8], NC_000011.10:g.35299335CT[9], NC_000011.10:g.35299335CT[11], NC_000011.10:g.35299335CT[12], NC_000011.10:g.35299335CT[13], NC_000011.9:g.35320882CT[7], NC_000011.9:g.35320882CT[8], NC_000011.9:g.35320882CT[9], NC_000011.9:g.35320882CT[11], NC_000011.9:g.35320882CT[12], NC_000011.9:g.35320882CT[13], NG_008727.2:g.125206GA[7], NG_008727.2:g.125206GA[8], NG_008727.2:g.125206GA[9], NG_008727.2:g.125206GA[11], NG_008727.2:g.125206GA[12], NG_008727.2:g.125206GA[13]

Select item 149097294119.

rs1490972941 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:35283900 (GRCh38)
11:35305447 (GRCh37)
Canonical SPDI:: NC_000011.10:35283899:T:C
Gene:: SLC1A2 (Varview), SLC1A2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.35283900T>C, NC_000011.9:g.35305447T>C, NG_008727.2:g.140659A>G

Select item 149096353920.

rs1490963539 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACATTTCCCA [Show Flanks]
Chromosome:: 11:35311822 (GRCh38)
11:35333370 (GRCh37)
Canonical SPDI:: NC_000011.10:35311822:ACATTTCCCA:ACATTTCCCAACATTTCCCA
Gene:: SLC1A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACATTTCCCAACATTTCCCA=0./0 (ALFA)
ACATTTCCCA=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.35311823_35311832dup, NC_000011.9:g.35333370_35333379dup, NG_008727.2:g.112727_112736dup

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