SNP Links for Gene (Select 105372799) - SNP

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Select item 14915853031.

rs1491585303 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,C [Show Flanks]
Chromosome:: 21:37729335 (GRCh38)
21:39101639 (GRCh37)
Canonical SPDI:: NC_000021.9:37729335::A,NC_000021.9:37729335::C
Gene:: KCNJ6 (Varview), KCNJ6-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
A=0.000716/31 (GnomAD)
HGVS:: NC_000021.9:g.37729335_37729336insA, NC_000021.9:g.37729335_37729336insC, NC_000021.8:g.39101638_39101639insA, NC_000021.8:g.39101638_39101639insC, NG_029892.2:g.192058_192059insT, NG_029892.2:g.192058_192059insG

Select item 14915525432.

rs1491552543 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTT [Show Flanks]
Chromosome:: 21:37720703 (GRCh38)
21:39093007 (GRCh37)
Canonical SPDI:: NC_000021.9:37720703:TTT:TTTCTTT
Gene:: KCNJ6 (Varview), KCNJ6-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTCTTT=0./0 (ALFA)
TTTC=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.37720706_37720707insCTTT, NC_000021.8:g.39093009_39093010insCTTT, NG_029892.2:g.200690_200691insGAAA

Select item 14914847393.

rs1491484739 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 21:37729345 (GRCh38)
21:39101648 (GRCh37)
Canonical SPDI:: NC_000021.9:37729344:GC:
Gene:: KCNJ6 (Varview), KCNJ6-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.1053/406 (ALSPAC)
-=0.1386/514 (TWINSUK)
HGVS:: NC_000021.9:g.37729345_37729346del, NC_000021.8:g.39101648_39101649del, NG_029892.2:g.192048_192049del

Select item 14913217884.

rs1491321788 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTAT,GTATAT,GTATATAT,GTATATATAT,GTGTATAT,GTGTATATAT [Show Flanks]
Chromosome:: 21:37728698 (GRCh38)
21:39101002 (GRCh37)
Canonical SPDI:: NC_000021.9:37728698:T:TGTAT,NC_000021.9:37728698:T:TGTATAT,NC_000021.9:37728698:T:TGTATATAT,NC_000021.9:37728698:T:TGTATATATAT,NC_000021.9:37728698:T:TGTGTATAT,NC_000021.9:37728698:T:TGTGTATATAT
Gene:: KCNJ6 (Varview), KCNJ6-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTATAT=0./0 (ALFA)
HGVS:: NC_000021.9:g.37728699_37728700insGTAT, NC_000021.9:g.37728699_37728700insGTATAT, NC_000021.9:g.37728699_37728700insGTATATAT, NC_000021.9:g.37728699_37728700insGTATATATAT, NC_000021.9:g.37728699TG[2]TA[2]T[1], NC_000021.9:g.37728699TG[2]TA[3]T[1], NC_000021.8:g.39101002_39101003insGTAT, NC_000021.8:g.39101002_39101003insGTATAT, NC_000021.8:g.39101002_39101003insGTATATAT, NC_000021.8:g.39101002_39101003insGTATATATAT, NC_000021.8:g.39101002TG[2]TA[2]T[1], NC_000021.8:g.39101002TG[2]TA[3]T[1], NG_029892.2:g.192695_192696insTACA, NG_029892.2:g.192695AT[2]ACA[1], NG_029892.2:g.192695AT[3]ACA[1], NG_029892.2:g.192695AT[4]ACA[1], NG_029892.2:g.192695AT[2]AC[2]A[1], NG_029892.2:g.192695AT[3]AC[2]A[1]

Select item 14911390965.

rs1491139096 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 21:37728710 (GRCh38)
21:39101014 (GRCh37)
Canonical SPDI:: NC_000021.9:37728710:TGT:TGTGT
Gene:: KCNJ6 (Varview), KCNJ6-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGT=0./0 (ALFA)
TG=0.000004/1 (TOPMED)
TG=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.37728712_37728713dup, NC_000021.8:g.39101015_39101016dup, NG_029892.2:g.192682_192683dup

Select item 14910585266.

rs1491058526 has merged into rs33993661 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 21:37727468 (GRCh38)
21:39099771 (GRCh37)
Canonical SPDI:: NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTG,NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTGTG,NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTG,NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTG,NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: KCNJ6 (Varview), KCNJ6-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTG=0./0 (ALFA)
-=0.1/4 (GENOME_DK)
-=0.3574/1790 (1000Genomes)
HGVS:: NC_000021.9:g.37727460TG[4], NC_000021.9:g.37727460TG[5], NC_000021.9:g.37727460TG[6], NC_000021.9:g.37727460TG[7], NC_000021.9:g.37727460TG[9], NC_000021.9:g.37727460TG[10], NC_000021.9:g.37727460TG[11], NC_000021.9:g.37727460TG[12], NC_000021.8:g.39099763TG[4], NC_000021.8:g.39099763TG[5], NC_000021.8:g.39099763TG[6], NC_000021.8:g.39099763TG[7], NC_000021.8:g.39099763TG[9], NC_000021.8:g.39099763TG[10], NC_000021.8:g.39099763TG[11], NC_000021.8:g.39099763TG[12], NG_029892.2:g.193920AC[4], NG_029892.2:g.193920AC[5], NG_029892.2:g.193920AC[6], NG_029892.2:g.193920AC[7], NG_029892.2:g.193920AC[9], NG_029892.2:g.193920AC[10], NG_029892.2:g.193920AC[11], NG_029892.2:g.193920AC[12]

Select item 14908629567.

rs1490862956 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:37738062 (GRCh38)
21:39110365 (GRCh37)
Canonical SPDI:: NC_000021.9:37738061:A:G
Gene:: KCNJ6 (Varview), KCNJ6-AS1 (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_000021.9:g.37738062A>G, NC_000021.8:g.39110365A>G, NG_029892.2:g.183332T>C

Select item 14906387838.

rs1490638783 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:37726069 (GRCh38)
21:39098372 (GRCh37)
Canonical SPDI:: NC_000021.9:37726068:C:A
Gene:: KCNJ6 (Varview), KCNJ6-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.37726069C>A, NC_000021.8:g.39098372C>A, NG_029892.2:g.195325G>T

Select item 14905725819.

rs1490572581 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:37730038 (GRCh38)
21:39102341 (GRCh37)
Canonical SPDI:: NC_000021.9:37730037:T:C
Gene:: KCNJ6 (Varview), KCNJ6-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.37730038T>C, NC_000021.8:g.39102341T>C, NG_029892.2:g.191356A>G, XR_937707.3:n.2583T>C, XR_937707.2:n.653T>C, XR_937707.1:n.632T>C

Select item 149030338510.

rs1490303385 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:37721550 (GRCh38)
21:39093853 (GRCh37)
Canonical SPDI:: NC_000021.9:37721549:A:G
Gene:: KCNJ6 (Varview), KCNJ6-AS1 (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_000021.9:g.37721550A>G, NC_000021.8:g.39093853A>G, NG_029892.2:g.199844T>C

Select item 148998472311.

rs1489984723 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 21:37714088 (GRCh38)
21:39086391 (GRCh37)
Canonical SPDI:: NC_000021.9:37714087:A:C
Gene:: KCNJ6 (Varview), KCNJ6-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.37714088A>C, NC_000021.8:g.39086391A>C, NG_029892.2:g.207306T>G

Select item 148980417512.

rs1489804175 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:37714951 (GRCh38)
21:39087254 (GRCh37)
Canonical SPDI:: NC_000021.9:37714950:T:G
Gene:: KCNJ6 (Varview), KCNJ6-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000021.9:g.37714951T>G, NC_000021.8:g.39087254T>G, NG_029892.2:g.206443A>C, NM_002240.4:c.206A>C, NM_002240.5:c.206A>C, NM_002240.3:c.206A>C, XR_937707.3:n.986T>G, NP_002231.1:p.Asn69Thr

Select item 148974917113.

rs1489749171 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:37736694 (GRCh38)
21:39108997 (GRCh37)
Canonical SPDI:: NC_000021.9:37736693:G:A
Gene:: KCNJ6 (Varview), KCNJ6-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000212/4 (ALFA)
A=0.000034/9 (TOPMED)
A=0.000257/36 (GnomAD)
A=0.000893/4 (Estonian)
HGVS:: NC_000021.9:g.37736694G>A, NC_000021.8:g.39108997G>A, NG_029892.2:g.184700C>T

Select item 148963723314.

rs1489637233 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 21:37722784 (GRCh38)
21:39095087 (GRCh37)
Canonical SPDI:: NC_000021.9:37722783:C:A,NC_000021.9:37722783:C:T
Gene:: KCNJ6 (Varview), KCNJ6-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.37722784C>A, NC_000021.9:g.37722784C>T, NC_000021.8:g.39095087C>A, NC_000021.8:g.39095087C>T, NG_029892.2:g.198610G>T, NG_029892.2:g.198610G>A

Select item 148963471515.

rs1489634715 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 21:37739618 (GRCh38)
21:39111921 (GRCh37)
Canonical SPDI:: NC_000021.9:37739617:G:A,NC_000021.9:37739617:G:T
Gene:: KCNJ6 (Varview), KCNJ6-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000121/32 (TOPMED)
T=0.000156/1 (1000Genomes)
A=0.000354/6 (TOMMO)
HGVS:: NC_000021.9:g.37739618G>A, NC_000021.9:g.37739618G>T, NC_000021.8:g.39111921G>A, NC_000021.8:g.39111921G>T, NG_029892.2:g.181776C>T, NG_029892.2:g.181776C>A, XR_937707.3:n.4484G>A, XR_937707.3:n.4484G>T, XR_937707.2:n.2554G>A, XR_937707.2:n.2554G>T

Select item 148941484216.

rs1489414842 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:37738480 (GRCh38)
21:39110783 (GRCh37)
Canonical SPDI:: NC_000021.9:37738479:G:A
Gene:: KCNJ6 (Varview), KCNJ6-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000021.9:g.37738480G>A, NC_000021.8:g.39110783G>A, NG_029892.2:g.182914C>T

Select item 148923235917.

rs1489232359 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGACTGC>- [Show Flanks]
Chromosome:: 21:37720756 (GRCh38)
21:39093059 (GRCh37)
Canonical SPDI:: NC_000021.9:37720747:CGGACTGCGGACTGC:CGGACTGC
Gene:: KCNJ6 (Varview), KCNJ6-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGGACTGC=0.000084/1 (ALFA)
-=0.000087/12 (GnomAD)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000021.9:g.37720749GGACTGC[1], NC_000021.8:g.39093052GGACTGC[1], NG_029892.2:g.200633CAGTCCG[1]

Select item 148908620518.

rs1489086205 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:37718671 (GRCh38)
21:39090974 (GRCh37)
Canonical SPDI:: NC_000021.9:37718670:T:G
Gene:: KCNJ6 (Varview), KCNJ6-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.01273/151 (ALFA)
G=0.00071/20 (TOMMO)
HGVS:: NC_000021.9:g.37718671T>G, NC_000021.8:g.39090974T>G, NG_029892.2:g.202723A>C

Select item 148904676619.

rs1489046766 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:37721128 (GRCh38)
21:39093431 (GRCh37)
Canonical SPDI:: NC_000021.9:37721127:C:T
Gene:: KCNJ6 (Varview), KCNJ6-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.37721128C>T, NC_000021.8:g.39093431C>T, NG_029892.2:g.200266G>A

Select item 148892383920.

rs1488923839 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:37719375 (GRCh38)
21:39091678 (GRCh37)
Canonical SPDI:: NC_000021.9:37719374:G:A
Gene:: KCNJ6 (Varview), KCNJ6-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000021.9:g.37719375G>A, NC_000021.8:g.39091678G>A, NG_029892.2:g.202019C>T

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