SNP Links for Gene (Select 3792) - SNP

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Select item 14909048661.

rs1490904866 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:142953796 (GRCh38)
7:142650883 (GRCh37)
Canonical SPDI:: NC_000007.14:142953795:C:T
Gene:: KEL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.142953796C>T, NC_000007.13:g.142650883C>T, NG_007492.3:g.13621G>A, NT_187562.1:g.976863C>T, NW_003571040.1:g.1156543C>T

Select item 14908536752.

rs1490853675 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 7:142952786 (GRCh38)
7:142649873 (GRCh37)
Canonical SPDI:: NC_000007.14:142952785:A:C,NC_000007.14:142952785:A:T
Gene:: KEL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.142952786A>C, NC_000007.14:g.142952786A>T, NC_000007.13:g.142649873A>C, NC_000007.13:g.142649873A>T, NG_007492.3:g.14631T>G, NG_007492.3:g.14631T>A, NT_187562.1:g.975853A>C, NT_187562.1:g.975853A>T, NW_003571040.1:g.1155533A>C, NW_003571040.1:g.1155533A>T

Select item 14908320063.

rs1490832006 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:142962213 (GRCh38)
7:142659300 (GRCh37)
Canonical SPDI:: NC_000007.14:142962212:A:G
Gene:: KEL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000007.14:g.142962213A>G, NC_000007.13:g.142659300A>G, NG_007492.3:g.5204T>C, NM_000420.3:c.-7T>C, NM_000420.2:c.-7T>C, NT_187562.1:g.985280A>G, NW_003571040.1:g.1164960A>G, XM_047420357.1:c.-7T>C

Select item 14907633514.

rs1490763351 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:142955329 (GRCh38)
7:142652416 (GRCh37)
Canonical SPDI:: NC_000007.14:142955328:G:A
Gene:: KEL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.142955329G>A, NC_000007.13:g.142652416G>A, NG_007492.3:g.12088C>T, NT_187562.1:g.978396G>A, NW_003571040.1:g.1158076G>A

Select item 14903292495.

rs1490329249 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:142947326 (GRCh38)
7:142644413 (GRCh37)
Canonical SPDI:: NC_000007.14:142947325:C:A,NC_000007.14:142947325:C:T
Gene:: KEL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.142947326C>A, NC_000007.14:g.142947326C>T, NC_000007.13:g.142644413C>A, NC_000007.13:g.142644413C>T, NG_007492.3:g.20091G>T, NG_007492.3:g.20091G>A, NT_187562.1:g.970393C>A, NT_187562.1:g.970393C>T, NW_003571040.1:g.1150073C>A, NW_003571040.1:g.1150073C>T

Select item 14902733646.

rs1490273364 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:142956546 (GRCh38)
7:142653633 (GRCh37)
Canonical SPDI:: NC_000007.14:142956545:C:T
Gene:: KEL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.142956546C>T, NC_000007.13:g.142653633C>T, NG_007492.3:g.10871G>A, NT_187562.1:g.979613C>T, NW_003571040.1:g.1159293C>T

Select item 14898126727.

rs1489812672 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:142946779 (GRCh38)
7:142643866 (GRCh37)
Canonical SPDI:: NC_000007.14:142946778:C:G,NC_000007.14:142946778:C:T
Gene:: KEL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.142946779C>G, NC_000007.14:g.142946779C>T, NC_000007.13:g.142643866C>G, NC_000007.13:g.142643866C>T, NG_007492.3:g.20638G>C, NG_007492.3:g.20638G>A, NT_187562.1:g.969846C>G, NT_187562.1:g.969846C>T, NW_003571040.1:g.1149526C>G, NW_003571040.1:g.1149526C>T

Select item 14896982588.

rs1489698258 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:142955833 (GRCh38)
7:142652920 (GRCh37)
Canonical SPDI:: NC_000007.14:142955832:T:A
Gene:: KEL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.142955833T>A, NC_000007.13:g.142652920T>A, NG_007492.3:g.11584A>T, NT_187562.1:g.978900T>A, NW_003571040.1:g.1158580T>A

Select item 14896448119.

rs1489644811 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:142942559 (GRCh38)
7:142639646 (GRCh37)
Canonical SPDI:: NC_000007.14:142942558:C:T
Gene:: KEL (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000007.14:g.142942559C>T, NC_000007.13:g.142639646C>T, NG_007492.3:g.24858G>A, NT_187562.1:g.965626C>T, NW_003571040.1:g.1145306C>T

Select item 148949912710.

rs1489499127 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:142944460 (GRCh38)
7:142641547 (GRCh37)
Canonical SPDI:: NC_000007.14:142944459:C:T
Gene:: KEL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.142944460C>T, NC_000007.13:g.142641547C>T, NG_007492.3:g.22957G>A, NT_187562.1:g.967527C>T, NW_003571040.1:g.1147207C>T

Select item 148941961211.

rs1489419612 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 7:142946877 (GRCh38)
7:142643964 (GRCh37)
Canonical SPDI:: NC_000007.14:142946876:AAAA:AAA
Gene:: KEL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAA=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.142946880del, NC_000007.13:g.142643967del, NG_007492.3:g.20540del, NT_187562.1:g.969947del, NW_003571040.1:g.1149627del

Select item 148918955312.

rs1489189553 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:142962802 (GRCh38)
7:142659889 (GRCh37)
Canonical SPDI:: NC_000007.14:142962801:A:G
Gene:: KEL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000054/1 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000029/4 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000007.14:g.142962802A>G, NC_000007.13:g.142659889A>G, NG_007492.3:g.4615T>C, NT_187562.1:g.985869A>G, NW_003571040.1:g.1165549A>G

Select item 148907848813.

rs1489078488 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:142961778 (GRCh38)
7:142658865 (GRCh37)
Canonical SPDI:: NC_000007.14:142961777:G:A,NC_000007.14:142961777:G:C
Gene:: KEL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.142961778G>A, NC_000007.14:g.142961778G>C, NC_000007.13:g.142658865G>A, NC_000007.13:g.142658865G>C, NG_007492.3:g.5639C>T, NG_007492.3:g.5639C>G, NT_187562.1:g.984845G>A, NT_187562.1:g.984845G>C, NW_003571040.1:g.1164525G>A, NW_003571040.1:g.1164525G>C

Select item 148856273814.

rs1488562738 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:142960084 (GRCh38)
7:142657171 (GRCh37)
Canonical SPDI:: NC_000007.14:142960083:C:A
Gene:: KEL (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_000007.14:g.142960084C>A, NC_000007.13:g.142657171C>A, NG_007492.3:g.7333G>T, NT_187562.1:g.983151C>A, NW_003571040.1:g.1162831C>A

Select item 148856160715.

rs1488561607 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:142957982 (GRCh38)
7:142655069 (GRCh37)
Canonical SPDI:: NC_000007.14:142957981:G:A
Gene:: KEL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
HGVS:: NC_000007.14:g.142957982G>A, NC_000007.13:g.142655069G>A, NG_007492.3:g.9435C>T, NT_187562.1:g.981049G>A, NW_003571040.1:g.1160729G>A

Select item 148851557016.

rs1488515570 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 7:142944844 (GRCh38)
7:142641931 (GRCh37)
Canonical SPDI:: NC_000007.14:142944843:A:G,NC_000007.14:142944843:A:T
Gene:: KEL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00007/1 (ALFA)
HGVS:: NC_000007.14:g.142944844A>G, NC_000007.14:g.142944844A>T, NC_000007.13:g.142641931A>G, NC_000007.13:g.142641931A>T, NG_007492.3:g.22573T>C, NG_007492.3:g.22573T>A, NT_187562.1:g.967911A>G, NT_187562.1:g.967911A>T, NW_003571040.1:g.1147591A>G, NW_003571040.1:g.1147591A>T

Select item 148836061117.

rs1488360611 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:142960517 (GRCh38)
7:142657604 (GRCh37)
Canonical SPDI:: NC_000007.14:142960516:T:C
Gene:: KEL (Varview)
Functional Consequence:: intron_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_000007.14:g.142960517T>C, NC_000007.13:g.142657604T>C, NG_007492.3:g.6900A>G, NT_187562.1:g.983584T>C, NW_003571040.1:g.1163264T>C

Select item 148829722318.

rs1488297223 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:142953967 (GRCh38)
7:142651054 (GRCh37)
Canonical SPDI:: NC_000007.14:142953966:G:A
Gene:: KEL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
A=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000007.14:g.142953967G>A, NC_000007.13:g.142651054G>A, NG_007492.3:g.13450C>T, NT_187562.1:g.977034G>A, NW_003571040.1:g.1156714G>A

Select item 148785626219.

rs1487856262 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:142962506 (GRCh38)
7:142659593 (GRCh37)
Canonical SPDI:: NC_000007.14:142962505:T:C
Gene:: KEL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.142962506T>C, NC_000007.13:g.142659593T>C, NG_007492.3:g.4911A>G, NT_187562.1:g.985573T>C, NW_003571040.1:g.1165253T>C

Select item 148764406220.

rs1487644062 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:142940709 (GRCh38)
7:142637796 (GRCh37)
Canonical SPDI:: NC_000007.14:142940708:T:C
Gene:: KEL (Varview), LLCFC1 (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.142940709T>C, NC_000007.13:g.142637796T>C, NG_007492.3:g.26708A>G, NT_187562.1:g.963776T>C, NW_003571040.1:g.1143456T>C, NM_178829.5:c.*122T>C, NM_178829.4:c.*122T>C, NM_001382496.1:c.*122T>C, NR_160290.1:n.441T>C

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