SNP Links for Gene (Select 57084) - SNP

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Select item 14915699151.

rs1491569915 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 11:22360527 (GRCh38)
11:22382074 (GRCh37)
Canonical SPDI:: NC_000011.10:22360527::T
Gene:: SLC17A6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00003/2 (GnomAD)
HGVS:: NC_000011.10:g.22360527_22360528insT, NC_000011.9:g.22382073_22382074insT

Select item 14914865562.

rs1491486556 has merged into rs59936385 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC,CCCCC,CCCCCC [Show Flanks]
Chromosome:: 11:22360535 (GRCh38)
11:22382081 (GRCh37)
Canonical SPDI:: NC_000011.10:22360526:CCCCCCCCCCC:CCCCCCCC,NC_000011.10:22360526:CCCCCCCCCCC:CCCCCCCCC,NC_000011.10:22360526:CCCCCCCCCCC:CCCCCCCCCC,NC_000011.10:22360526:CCCCCCCCCCC:CCCCCCCCCCCC,NC_000011.10:22360526:CCCCCCCCCCC:CCCCCCCCCCCCC,NC_000011.10:22360526:CCCCCCCCCCC:CCCCCCCCCCCCCC
Gene:: SLC17A6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCCC=0./0 (ALFA)
-=0.15167/91 (NorthernSweden)
-=0.225/9 (GENOME_DK)
HGVS:: NC_000011.10:g.22360535_22360537del, NC_000011.10:g.22360536_22360537del, NC_000011.10:g.22360537del, NC_000011.10:g.22360537dup, NC_000011.10:g.22360536_22360537dup, NC_000011.10:g.22360535_22360537dup, NC_000011.9:g.22382081_22382083del, NC_000011.9:g.22382082_22382083del, NC_000011.9:g.22382083del, NC_000011.9:g.22382083dup, NC_000011.9:g.22382082_22382083dup, NC_000011.9:g.22382081_22382083dup

Select item 14914839053.

rs1491483905 has merged into rs1341991021 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTTT [Show Flanks]
Chromosome:: 11:22339181 (GRCh38)
11:22360727 (GRCh37)
Canonical SPDI:: NC_000011.10:22339178:TTTT:TT,NC_000011.10:22339178:TTTT:TTTTTT
Gene:: SLC17A6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
-=0.00004/0 (TOMMO)
HGVS:: NC_000011.10:g.22339181_22339182del, NC_000011.10:g.22339181_22339182dup, NC_000011.9:g.22360727_22360728del, NC_000011.9:g.22360727_22360728dup

Select item 14914267774.

rs1491426777 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:22360537 (GRCh38)
11:22382083 (GRCh37)
Canonical SPDI:: NC_000011.10:22360536:CA:
Gene:: SLC17A6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000011.10:g.22360537_22360538del, NC_000011.9:g.22382083_22382084del

Select item 14914178735.

rs1491417873 has merged into rs375847776 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT [Show Flanks]
Chromosome:: 11:22339099 (GRCh38)
11:22360645 (GRCh37)
Canonical SPDI:: NC_000011.10:22339091:TATATATATAT:TATATAT,NC_000011.10:22339091:TATATATATAT:TATATATAT,NC_000011.10:22339091:TATATATATAT:TATATATATATAT,NC_000011.10:22339091:TATATATATAT:TATATATATATATAT
Gene:: SLC17A6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATAT=0./0 (ALFA)
-=0.1277/72 (NorthernSweden)
-=0.2188/1096 (1000Genomes)
HGVS:: NC_000011.10:g.22339093AT[3], NC_000011.10:g.22339093AT[4], NC_000011.10:g.22339093AT[6], NC_000011.10:g.22339093AT[7], NC_000011.9:g.22360639AT[3], NC_000011.9:g.22360639AT[4], NC_000011.9:g.22360639AT[6], NC_000011.9:g.22360639AT[7]

Select item 14913459806.

rs1491345980 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA [Show Flanks]
Chromosome:: 11:22374525 (GRCh38)
11:22396072 (GRCh37)
Canonical SPDI:: NC_000011.10:22374525::A,NC_000011.10:22374525::AA
Gene:: SLC17A6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000011.10:g.22374525_22374526insA, NC_000011.10:g.22374525_22374526insAA, NC_000011.9:g.22396071_22396072insA, NC_000011.9:g.22396071_22396072insAA

Select item 14913457777.

rs1491345777 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 11:22339179 (GRCh38)
11:22360726 (GRCh37)
Canonical SPDI:: NC_000011.10:22339179:T:TAT
Gene:: SLC17A6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TAT=0./0 (ALFA)
HGVS:: NC_000011.10:g.22339180_22339181insAT, NC_000011.9:g.22360726_22360727insAT

Select item 14912995038.

rs1491299503 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 11:22374525 (GRCh38)
11:22396071 (GRCh37)
Canonical SPDI:: NC_000011.10:22374524:GC:
Gene:: SLC17A6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00007/1 (ALFA)
HGVS:: NC_000011.10:g.22374525_22374526del, NC_000011.9:g.22396071_22396072del

Select item 14912466459.

rs1491246645 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 11:22339091 (GRCh38)
11:22360637 (GRCh37)
Canonical SPDI:: NC_000011.10:22339090:TT:
Gene:: SLC17A6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00003/2 (GnomAD)
HGVS:: NC_000011.10:g.22339091_22339092del, NC_000011.9:g.22360637_22360638del

Select item 149121729610.

rs1491217296 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CATATA [Show Flanks]
Chromosome:: 11:22339182 (GRCh38)
11:22360729 (GRCh37)
Canonical SPDI:: NC_000011.10:22339182:ATATA:ATATACATATA
Gene:: SLC17A6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATACATATA=0./0 (ALFA)
ATATAC=0.00007/1 (GnomAD)
ATATAC=0.00133/21 (TOMMO)
HGVS:: NC_000011.10:g.22339183_22339187AT[2]ACATATA[1], NC_000011.9:g.22360729_22360733AT[2]ACATATA[1]

Select item 149112769111.

rs1491127691 has merged into rs60197884 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT [Show Flanks]
Chromosome:: 11:22339195 (GRCh38)
11:22360741 (GRCh37)
Canonical SPDI:: NC_000011.10:22339181:TATATATATATATATATATATAT:TATATATATATAT,NC_000011.10:22339181:TATATATATATATATATATATAT:TATATATATATATAT,NC_000011.10:22339181:TATATATATATATATATATATAT:TATATATATATATATAT,NC_000011.10:22339181:TATATATATATATATATATATAT:TATATATATATATATATAT,NC_000011.10:22339181:TATATATATATATATATATATAT:TATATATATATATATATATAT,NC_000011.10:22339181:TATATATATATATATATATATAT:TATATATATATATATATATATATAT,NC_000011.10:22339181:TATATATATATATATATATATAT:TATATATATATATATATATATATATAT,NC_000011.10:22339181:TATATATATATATATATATATAT:TATATATATATATATATATATATATATAT,NC_000011.10:22339181:TATATATATATATATATATATAT:TATATATATATATATATATATATATATATAT
Gene:: SLC17A6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATAT=0./0 (ALFA)
TATA=0.3327/1666 (1000Genomes)
TATATA=0.4/16 (GENOME_DK)
HGVS:: NC_000011.10:g.22339183AT[6], NC_000011.10:g.22339183AT[7], NC_000011.10:g.22339183AT[8], NC_000011.10:g.22339183AT[9], NC_000011.10:g.22339183AT[10], NC_000011.10:g.22339183AT[12], NC_000011.10:g.22339183AT[13], NC_000011.10:g.22339183AT[14], NC_000011.10:g.22339183AT[15], NC_000011.9:g.22360729AT[6], NC_000011.9:g.22360729AT[7], NC_000011.9:g.22360729AT[8], NC_000011.9:g.22360729AT[9], NC_000011.9:g.22360729AT[10], NC_000011.9:g.22360729AT[12], NC_000011.9:g.22360729AT[13], NC_000011.9:g.22360729AT[14], NC_000011.9:g.22360729AT[15]

Select item 149108067712.

rs1491080677 [Homo sapiens]

Variant type:: SNV:
Alleles:: TA>-
Chromosome:: no mapping
Canonical SPDI:

Select item 149106437913.

rs1491064379 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 11:22338851 (GRCh38)
11:22360398 (GRCh37)
Canonical SPDI:: NC_000011.10:22338851:T:TAT
Gene:: SLC17A6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TAT=0.000169/2 (ALFA)
TA=0.000068/9 (GnomAD)
HGVS:: NC_000011.10:g.22338852_22338853insAT, NC_000011.9:g.22360398_22360399insAT

Select item 149101484314.

rs1491014843 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 11:22360536 (GRCh38)
11:22382083 (GRCh37)
Canonical SPDI:: NC_000011.10:22360536::A
Gene:: SLC17A6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000063/8 (GnomAD)
A=0.000531/9 (TOMMO)
HGVS:: NC_000011.10:g.22360536_22360537insA, NC_000011.9:g.22382082_22382083insA

Select item 149076860915.

rs1490768609 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:22378655 (GRCh38)
11:22400201 (GRCh37)
Canonical SPDI:: NC_000011.10:22378654:A:C
Gene:: SLC17A6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.22378655A>C, NC_000011.9:g.22400201A>C, NM_020346.3:c.*915A>C, NM_020346.2:c.*915A>C

Select item 149065880616.

rs1490658806 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:22356697 (GRCh38)
11:22378243 (GRCh37)
Canonical SPDI:: NC_000011.10:22356696:A:G
Gene:: SLC17A6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.22356697A>G, NC_000011.9:g.22378243A>G

Select item 149064115317.

rs1490641153 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:22371133 (GRCh38)
11:22392679 (GRCh37)
Canonical SPDI:: NC_000011.10:22371132:A:G
Gene:: SLC17A6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.22371133A>G, NC_000011.9:g.22392679A>G

Select item 149062278018.

rs1490622780 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 11:22357059 (GRCh38)
11:22378605 (GRCh37)
Canonical SPDI:: NC_000011.10:22357058:GG:G
Gene:: SLC17A6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.22357060del, NC_000011.9:g.22378606del

Select item 149049701519.

rs1490497015 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:22349391 (GRCh38)
11:22370937 (GRCh37)
Canonical SPDI:: NC_000011.10:22349390:G:A
Gene:: SLC17A6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.22349391G>A, NC_000011.9:g.22370937G>A

Select item 149026573320.

rs1490265733 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:22336445 (GRCh38)
11:22357991 (GRCh37)
Canonical SPDI:: NC_000011.10:22336444:C:T
Gene:: SLC17A6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.22336445C>T, NC_000011.9:g.22357991C>T

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