SNP Links for Gene (Select 3790) - SNP

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Select item 14915888551.

rs1491588855 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:17888627 (GRCh38)
2:18069894 (GRCh37)
Canonical SPDI:: NC_000002.12:17888626:AT:
Gene:: KCNS3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00363/43 (ALFA)
-=0.01491/669 (GnomAD)
HGVS:: NC_000002.12:g.17888627_17888628del, NC_000002.11:g.18069894_18069895del, NG_012873.2:g.15782_15783del, NG_012873.1:g.14950_14951del

Select item 14913925452.

rs1491392545 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:17884256 (GRCh38)
2:18065523 (GRCh37)
Canonical SPDI:: NC_000002.12:17884255:TA:
Gene:: KCNS3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00006/1 (GnomAD)
HGVS:: NC_000002.12:g.17884256_17884257del, NC_000002.11:g.18065523_18065524del, NG_012873.2:g.11411_11412del, NG_012873.1:g.10579_10580del

Select item 14913548963.

rs1491354896 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:17924671 (GRCh38)
2:18105938 (GRCh37)
Canonical SPDI:: NC_000002.12:17924670:TA:
Gene:: KCNS3 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000002.12:g.17924671_17924672del, NC_000002.11:g.18105938_18105939del, NG_012873.2:g.51826_51827del, NG_012873.1:g.50994_50995del

Select item 14913548374.

rs1491354837 [Homo sapiens]

Variant type:: INS
Alleles:: ->TAA,TAAAA [Show Flanks]
Chromosome:: 2:17884256 (GRCh38)
2:18065524 (GRCh37)
Canonical SPDI:: NC_000002.12:17884256::TAA,NC_000002.12:17884256::TAAAA
Gene:: KCNS3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TAAAA=0./0 (ALFA)
TAA=0.00001/1 (GnomAD)
HGVS:: NC_000002.12:g.17884256_17884257insTAA, NC_000002.12:g.17884256_17884257insTAAAA, NC_000002.11:g.18065523_18065524insTAA, NC_000002.11:g.18065523_18065524insTAAAA, NG_012873.2:g.11411_11412insTAA, NG_012873.2:g.11411_11412insTAAAA, NG_012873.1:g.10579_10580insTAA, NG_012873.1:g.10579_10580insTAAAA

Select item 14913422815.

rs1491342281 has merged into rs879593280 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>C,GCA,T [Show Flanks]
Chromosome:: 2:17913139 (GRCh38)
2:18094406 (GRCh37)
Canonical SPDI:: NC_000002.12:17913138:TT:C,NC_000002.12:17913138:TT:GCA,NC_000002.12:17913138:TT:T
Gene:: KCNS3 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000002.12:g.17913139_17913140delinsC, NC_000002.12:g.17913139_17913140delinsGCA, NC_000002.12:g.17913140del, NC_000002.11:g.18094406_18094407delinsC, NC_000002.11:g.18094406_18094407delinsGCA, NC_000002.11:g.18094407del, NG_012873.2:g.40294_40295delinsC, NG_012873.2:g.40294_40295delinsGCA, NG_012873.2:g.40295del, NG_012873.1:g.39462_39463delinsC, NG_012873.1:g.39462_39463delinsGCA, NG_012873.1:g.39463del

Select item 14913141266.

rs1491314126 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 2:17884950 (GRCh38)
2:18066217 (GRCh37)
Canonical SPDI:: NC_000002.12:17884949:TC:
Gene:: KCNS3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.17884950_17884951del, NC_000002.11:g.18066217_18066218del, NG_012873.2:g.12105_12106del, NG_012873.1:g.11273_11274del

Select item 14913037397.

rs1491303739 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 2:17913139 (GRCh38)
2:18094406 (GRCh37)
Canonical SPDI:: NC_000002.12:17913138:TT:
Gene:: KCNS3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.059732/267 (ALFA)
TT=0.00683/114 (TOMMO)
TT=0.018559/34 (Korea1K)
TT=0.048333/29 (NorthernSweden)
TT=0.058705/263 (Estonian)
TT=0.075/3 (GENOME_DK)
TT=0.077295/495 (1000Genomes)
TT=0.087826/12283 (GnomAD)
HGVS:: NC_000002.12:g.17913139_17913140del, NC_000002.11:g.18094406_18094407del, NG_012873.2:g.40294_40295del, NG_012873.1:g.39462_39463del

Select item 14912986738.

rs1491298673 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:17896537 (GRCh38)
2:18077805 (GRCh37)
Canonical SPDI:: NC_000002.12:17896537::G
Gene:: KCNS3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000016/2 (GnomAD)
HGVS:: NC_000002.12:g.17896537_17896538insG, NC_000002.11:g.18077804_18077805insG, NG_012873.2:g.23692_23693insG, NG_012873.1:g.22860_22861insG

Select item 14912959299.

rs1491295929 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:17884932 (GRCh38)
2:18066199 (GRCh37)
Canonical SPDI:: NC_000002.12:17884930:TGT:T
Gene:: KCNS3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.17884932_17884933del, NC_000002.11:g.18066199_18066200del, NG_012873.2:g.12087_12088del, NG_012873.1:g.11255_11256del

Select item 149125234910.

rs1491252349 has merged into rs1553345286 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAAA [Show Flanks]
Chromosome:: 2:17921960 (GRCh38)
2:18103227 (GRCh37)
Canonical SPDI:: NC_000002.12:17921958:AAA:A,NC_000002.12:17921958:AAA:AAAAA
Gene:: KCNS3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.17921960_17921961del, NC_000002.12:g.17921960_17921961dup, NC_000002.11:g.18103227_18103228del, NC_000002.11:g.18103227_18103228dup, NG_012873.2:g.49115_49116del, NG_012873.2:g.49115_49116dup, NG_012873.1:g.48283_48284del, NG_012873.1:g.48283_48284dup

Select item 149099114411.

rs1490991144 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:17888032 (GRCh38)
2:18069299 (GRCh37)
Canonical SPDI:: NC_000002.12:17888031:T:G
Gene:: KCNS3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000002.12:g.17888032T>G, NC_000002.11:g.18069299T>G, NG_012873.2:g.15187T>G, NG_012873.1:g.14355T>G

Select item 149078603412.

rs1490786034 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:17918443 (GRCh38)
2:18099710 (GRCh37)
Canonical SPDI:: NC_000002.12:17918442:G:C
Gene:: KCNS3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.17918443G>C, NC_000002.11:g.18099710G>C, NG_012873.2:g.45598G>C, NG_012873.1:g.44766G>C

Select item 149059593713.

rs1490595937 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:17917947 (GRCh38)
2:18099214 (GRCh37)
Canonical SPDI:: NC_000002.12:17917946:T:C,NC_000002.12:17917946:T:G
Gene:: KCNS3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.17917947T>C, NC_000002.12:g.17917947T>G, NC_000002.11:g.18099214T>C, NC_000002.11:g.18099214T>G, NG_012873.2:g.45102T>C, NG_012873.2:g.45102T>G, NG_012873.1:g.44270T>C, NG_012873.1:g.44270T>G

Select item 149058095914.

rs1490580959 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:17881250 (GRCh38)
2:18062517 (GRCh37)
Canonical SPDI:: NC_000002.12:17881249:G:C
Gene:: KCNS3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000002.12:g.17881250G>C, NC_000002.11:g.18062517G>C, NG_012873.2:g.8405G>C, NG_012873.1:g.7573G>C

Select item 149044015015.

rs1490440150 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:17895996 (GRCh38)
2:18077263 (GRCh37)
Canonical SPDI:: NC_000002.12:17895995:T:C
Gene:: KCNS3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.17895996T>C, NC_000002.11:g.18077263T>C, NG_012873.2:g.23151T>C, NG_012873.1:g.22319T>C

Select item 149031204116.

rs1490312041 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:17899276 (GRCh38)
2:18080543 (GRCh37)
Canonical SPDI:: NC_000002.12:17899275:A:G
Gene:: KCNS3 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.17899276A>G, NC_000002.11:g.18080543A>G, NG_012873.2:g.26431A>G, NG_012873.1:g.25599A>G

Select item 149024574517.

rs1490245745 [Homo sapiens]

Variant type:: DEL
Alleles:: GGGGTGAG>- [Show Flanks]
Chromosome:: 2:17883412 (GRCh38)
2:18064679 (GRCh37)
Canonical SPDI:: NC_000002.12:17883411:GGGGTGAG:
Gene:: KCNS3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00022/4 (GnomAD)
HGVS:: NC_000002.12:g.17883412_17883419del, NC_000002.11:g.18064679_18064686del, NG_012873.2:g.10567_10574del, NG_012873.1:g.9735_9742del

Select item 149018746018.

rs1490187460 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:17933278 (GRCh38)
2:18114545 (GRCh37)
Canonical SPDI:: NC_000002.12:17933277:T:C
Gene:: KCNS3 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.17933278T>C, NC_000002.11:g.18114545T>C, NG_012873.2:g.60433T>C, NG_012873.1:g.59601T>C

Select item 149011268219.

rs1490112682 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:17884235 (GRCh38)
2:18065502 (GRCh37)
Canonical SPDI:: NC_000002.12:17884234:C:T
Gene:: KCNS3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.17884235C>T, NC_000002.11:g.18065502C>T, NG_012873.2:g.11390C>T, NG_012873.1:g.10558C>T

Select item 149007920520.

rs1490079205 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTATAT [Show Flanks]
Chromosome:: 2:17884281 (GRCh38)
2:18065549 (GRCh37)
Canonical SPDI:: NC_000002.12:17884281:TATAT:TATATGTATAT
Gene:: KCNS3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TATATGTATAT=0.000169/2 (ALFA)
TATATG=0.000108/12 (GnomAD)
HGVS:: NC_000002.12:g.17884282_17884286TA[2]TGTATAT[1], NC_000002.11:g.18065549_18065553TA[2]TGTATAT[1], NG_012873.2:g.11437_11441TA[2]TGTATAT[1], NG_012873.1:g.10605_10609TA[2]TGTATAT[1]