SNP Links for Protein (Select 27886670) - SNP

Select item 14909570841.

rs1490957084 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 10:101843561 (GRCh38)
10:103603318 (GRCh37)
Canonical SPDI:: NC_000010.11:101843560:CCCC:CCC
Gene:: KCNIP2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0.0002/1 (ALFA)
-=0.0002/1 (Estonian)
HGVS:: NC_000010.11:g.101843564del, NC_000010.10:g.103603321del, NG_029836.1:g.5360del, NM_014591.5:c.8del, NM_014591.4:c.8del, NM_173191.3:c.8del, NM_173191.2:c.8del, NM_173192.3:c.8del, NM_173192.2:c.8del, NM_173193.3:c.8del, NM_173193.2:c.8del, NM_173195.3:c.8del, NM_173195.2:c.8del, NM_173197.3:c.8del, NM_173197.2:c.8del, XM_006717812.3:c.8del, XM_006717812.2:c.8del, XM_006717812.1:c.8del, XM_005269729.3:c.8del, XM_005269729.2:c.8del, XM_005269729.1:c.8del, XM_005269730.3:c.8del, XM_005269730.2:c.8del, XM_005269730.1:c.8del, NM_173342.2:c.8del, NM_173342.1:c.8del, NP_055406.2:p.Gly3fs, NP_775283.1:p.Gly3fs, NP_775284.1:p.Gly3fs, NP_775285.1:p.Gly3fs, NP_775287.1:p.Gly3fs, NP_775289.1:p.Gly3fs, XP_006717875.1:p.Gly3fs, XP_005269786.1:p.Gly3fs, XP_005269787.1:p.Gly3fs

Select item 14860197282.

rs1486019728 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:101828162 (GRCh38)
10:103587919 (GRCh37)
Canonical SPDI:: NC_000010.11:101828161:T:C
Gene:: KCNIP2 (Varview), KCNIP2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.101828162T>C, NC_000010.10:g.103587919T>C, NG_029836.1:g.20759A>G, NM_014591.5:c.631A>G, NM_014591.4:c.631A>G, NM_173191.3:c.586A>G, NM_173191.2:c.586A>G, NM_173192.3:c.532A>G, NM_173192.2:c.532A>G, NM_173193.3:c.457A>G, NM_173193.2:c.457A>G, NM_173195.3:c.436A>G, NM_173195.2:c.436A>G, NM_173194.3:c.451A>G, NM_173194.2:c.451A>G, XM_006717812.3:c.586A>G, XM_006717812.2:c.586A>G, XM_006717812.1:c.586A>G, XM_005269729.3:c.532A>G, XM_005269729.2:c.532A>G, XM_005269729.1:c.532A>G, XM_005269730.3:c.436A>G, XM_005269730.2:c.436A>G, XM_005269730.1:c.436A>G, XM_011539731.3:c.451A>G, XM_011539731.2:c.451A>G, XM_011539731.1:c.451A>G, NM_173342.2:c.*212A>G, XM_017016161.2:c.466A>G, XM_017016161.1:c.466A>G, NM_173342.1:c.*212A>G, NP_055406.2:p.Ile211Val, NP_775283.1:p.Ile196Val, NP_775284.1:p.Ile178Val, NP_775285.1:p.Ile153Val, NP_775287.1:p.Ile146Val, NP_775286.1:p.Ile151Val, XP_006717875.1:p.Ile196Val, XP_005269786.1:p.Ile178Val, XP_005269787.1:p.Ile146Val, XP_011538033.1:p.Ile151Val, XP_016871650.1:p.Ile156Val

Select item 14805862953.

rs1480586295 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:101827362 (GRCh38)
10:103587119 (GRCh37)
Canonical SPDI:: NC_000010.11:101827361:A:G
Gene:: KCNIP2 (Varview), KCNIP2-AS1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000010.11:g.101827362A>G, NC_000010.10:g.103587119A>G, NG_029836.1:g.21559T>C, NM_014591.5:c.849T>C, NM_014591.4:c.849T>C, NM_173191.3:c.804T>C, NM_173191.2:c.804T>C, NM_173192.3:c.750T>C, NM_173192.2:c.750T>C, NM_173193.3:c.675T>C, NM_173193.2:c.675T>C, NM_173195.3:c.654T>C, NM_173195.2:c.654T>C, NM_173194.3:c.669T>C, NM_173194.2:c.669T>C, NM_173342.2:c.*430T>C, XM_017016161.2:c.684T>C, XM_017016161.1:c.684T>C, NM_173342.1:c.*430T>C

Select item 14799244234.

rs1479924423 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:101831121 (GRCh38)
10:103590878 (GRCh37)
Canonical SPDI:: NC_000010.11:101831120:G:A
Gene:: KCNIP2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
HGVS:: NC_000010.11:g.101831121G>A, NC_000010.10:g.103590878G>A, NG_029836.1:g.17800C>T, NM_014591.5:c.120C>T, NM_014591.4:c.120C>T, NM_173191.3:c.120C>T, NM_173191.2:c.120C>T, NM_173192.3:c.120C>T, NM_173192.2:c.120C>T, XM_006717812.3:c.120C>T, XM_006717812.2:c.120C>T, XM_006717812.1:c.120C>T, XM_005269729.3:c.120C>T, XM_005269729.2:c.120C>T, XM_005269729.1:c.120C>T, NM_173342.2:c.120C>T, NM_173342.1:c.120C>T

Select item 14730525375.

rs1473052537 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:101829860 (GRCh38)
10:103589617 (GRCh37)
Canonical SPDI:: NC_000010.11:101829859:G:A
Gene:: KCNIP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
HGVS:: NC_000010.11:g.101829860G>A, NC_000010.10:g.103589617G>A, NG_029836.1:g.19061C>T, NM_014591.5:c.252C>T, NM_014591.4:c.252C>T, NM_173191.3:c.207C>T, NM_173191.2:c.207C>T, XM_006717812.3:c.207C>T, XM_006717812.2:c.207C>T, XM_006717812.1:c.207C>T, NM_173342.2:c.252C>T, NM_173342.1:c.252C>T

Select item 14722726986.

rs1472272698 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:101829869 (GRCh38)
10:103589626 (GRCh37)
Canonical SPDI:: NC_000010.11:101829868:G:A,NC_000010.11:101829868:G:T
Gene:: KCNIP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.101829869G>A, NC_000010.11:g.101829869G>T, NC_000010.10:g.103589626G>A, NC_000010.10:g.103589626G>T, NG_029836.1:g.19052C>T, NG_029836.1:g.19052C>A, NM_014591.5:c.243C>T, NM_014591.5:c.243C>A, NM_014591.4:c.243C>T, NM_014591.4:c.243C>A, NM_173191.3:c.198C>T, NM_173191.3:c.198C>A, NM_173191.2:c.198C>T, NM_173191.2:c.198C>A, XM_006717812.3:c.198C>T, XM_006717812.3:c.198C>A, XM_006717812.2:c.198C>T, XM_006717812.2:c.198C>A, XM_006717812.1:c.198C>T, XM_006717812.1:c.198C>A, NM_173342.2:c.243C>T, NM_173342.2:c.243C>A, NM_173342.1:c.243C>T, NM_173342.1:c.243C>A

Select item 14639958197.

rs1463995819 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:101828175 (GRCh38)
10:103587932 (GRCh37)
Canonical SPDI:: NC_000010.11:101828174:G:A
Gene:: KCNIP2 (Varview), KCNIP2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.101828175G>A, NC_000010.10:g.103587932G>A, NG_029836.1:g.20746C>T, NM_014591.5:c.618C>T, NM_014591.4:c.618C>T, NM_173191.3:c.573C>T, NM_173191.2:c.573C>T, NM_173192.3:c.519C>T, NM_173192.2:c.519C>T, NM_173193.3:c.444C>T, NM_173193.2:c.444C>T, NM_173195.3:c.423C>T, NM_173195.2:c.423C>T, NM_173194.3:c.438C>T, NM_173194.2:c.438C>T, XM_006717812.3:c.573C>T, XM_006717812.2:c.573C>T, XM_006717812.1:c.573C>T, XM_005269729.3:c.519C>T, XM_005269729.2:c.519C>T, XM_005269729.1:c.519C>T, XM_005269730.3:c.423C>T, XM_005269730.2:c.423C>T, XM_005269730.1:c.423C>T, XM_011539731.3:c.438C>T, XM_011539731.2:c.438C>T, XM_011539731.1:c.438C>T, NM_173342.2:c.*199C>T, XM_017016161.2:c.453C>T, XM_017016161.1:c.453C>T, NM_173342.1:c.*199C>T

Select item 14563095518.

rs1456309551 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:101829875 (GRCh38)
10:103589632 (GRCh37)
Canonical SPDI:: NC_000010.11:101829874:G:A
Gene:: KCNIP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
HGVS:: NC_000010.11:g.101829875G>A, NC_000010.10:g.103589632G>A, NG_029836.1:g.19046C>T, NM_014591.5:c.237C>T, NM_014591.4:c.237C>T, NM_173191.3:c.192C>T, NM_173191.2:c.192C>T, XM_006717812.3:c.192C>T, XM_006717812.2:c.192C>T, XM_006717812.1:c.192C>T, NM_173342.2:c.237C>T, NM_173342.1:c.237C>T

Select item 14559656879.

rs1455965687 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:101828187 (GRCh38)
10:103587944 (GRCh37)
Canonical SPDI:: NC_000010.11:101828186:C:A,NC_000010.11:101828186:C:T
Gene:: KCNIP2 (Varview), KCNIP2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.101828187C>A, NC_000010.11:g.101828187C>T, NC_000010.10:g.103587944C>A, NC_000010.10:g.103587944C>T, NG_029836.1:g.20734G>T, NG_029836.1:g.20734G>A, NM_014591.5:c.606G>T, NM_014591.5:c.606G>A, NM_014591.4:c.606G>T, NM_014591.4:c.606G>A, NM_173191.3:c.561G>T, NM_173191.3:c.561G>A, NM_173191.2:c.561G>T, NM_173191.2:c.561G>A, NM_173192.3:c.507G>T, NM_173192.3:c.507G>A, NM_173192.2:c.507G>T, NM_173192.2:c.507G>A, NM_173193.3:c.432G>T, NM_173193.3:c.432G>A, NM_173193.2:c.432G>T, NM_173193.2:c.432G>A, NM_173195.3:c.411G>T, NM_173195.3:c.411G>A, NM_173195.2:c.411G>T, NM_173195.2:c.411G>A, NM_173194.3:c.426G>T, NM_173194.3:c.426G>A, NM_173194.2:c.426G>T, NM_173194.2:c.426G>A, XM_006717812.3:c.561G>T, XM_006717812.3:c.561G>A, XM_006717812.2:c.561G>T, XM_006717812.2:c.561G>A, XM_006717812.1:c.561G>T, XM_006717812.1:c.561G>A, XM_005269729.3:c.507G>T, XM_005269729.3:c.507G>A, XM_005269729.2:c.507G>T, XM_005269729.2:c.507G>A, XM_005269729.1:c.507G>T, XM_005269729.1:c.507G>A, XM_005269730.3:c.411G>T, XM_005269730.3:c.411G>A, XM_005269730.2:c.411G>T, XM_005269730.2:c.411G>A, XM_005269730.1:c.411G>T, XM_005269730.1:c.411G>A, XM_011539731.3:c.426G>T, XM_011539731.3:c.426G>A, XM_011539731.2:c.426G>T, XM_011539731.2:c.426G>A, XM_011539731.1:c.426G>T, XM_011539731.1:c.426G>A, NM_173342.2:c.*187G>T, NM_173342.2:c.*187G>A, XM_017016161.2:c.441G>T, XM_017016161.2:c.441G>A, XM_017016161.1:c.441G>T, XM_017016161.1:c.441G>A, NM_173342.1:c.*187G>T, NM_173342.1:c.*187G>A, NR_045118.1:n.268C>A, NR_045118.1:n.268C>T

Select item 145470321410.

rs1454703214 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:101828253 (GRCh38)
10:103588010 (GRCh37)
Canonical SPDI:: NC_000010.11:101828252:A:G
Gene:: KCNIP2 (Varview), KCNIP2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,non_coding_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_000010.11:g.101828253A>G, NC_000010.10:g.103588010A>G, NG_029836.1:g.20668T>C, NM_014591.5:c.540T>C, NM_014591.4:c.540T>C, NM_173191.3:c.495T>C, NM_173191.2:c.495T>C, NM_173192.3:c.441T>C, NM_173192.2:c.441T>C, NM_173193.3:c.366T>C, NM_173193.2:c.366T>C, NM_173195.3:c.345T>C, NM_173195.2:c.345T>C, NM_173194.3:c.360T>C, NM_173194.2:c.360T>C, XM_006717812.3:c.495T>C, XM_006717812.2:c.495T>C, XM_006717812.1:c.495T>C, XM_005269729.3:c.441T>C, XM_005269729.2:c.441T>C, XM_005269729.1:c.441T>C, XM_005269730.3:c.345T>C, XM_005269730.2:c.345T>C, XM_005269730.1:c.345T>C, XM_011539731.3:c.360T>C, XM_011539731.2:c.360T>C, XM_011539731.1:c.360T>C, NM_173342.2:c.*121T>C, XM_017016161.2:c.375T>C, XM_017016161.1:c.375T>C, NM_173342.1:c.*121T>C, NR_045118.1:n.334A>G

Select item 145189574311.

rs1451895743 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:101829896 (GRCh38)
10:103589653 (GRCh37)
Canonical SPDI:: NC_000010.11:101829895:T:C
Gene:: KCNIP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.101829896T>C, NC_000010.10:g.103589653T>C, NG_029836.1:g.19025A>G, NM_014591.5:c.216A>G, NM_014591.4:c.216A>G, NM_173191.3:c.171A>G, NM_173191.2:c.171A>G, XM_006717812.3:c.171A>G, XM_006717812.2:c.171A>G, XM_006717812.1:c.171A>G, NM_173342.2:c.216A>G, NM_173342.1:c.216A>G

Select item 144899674812.

rs1448996748 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:101827727 (GRCh38)
10:103587484 (GRCh37)
Canonical SPDI:: NC_000010.11:101827726:C:T
Gene:: KCNIP2 (Varview), KCNIP2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.101827727C>T, NC_000010.10:g.103587484C>T, NG_029836.1:g.21194G>A, NM_014591.5:c.772G>A, NM_014591.4:c.772G>A, NM_173191.3:c.727G>A, NM_173191.2:c.727G>A, NM_173192.3:c.673G>A, NM_173192.2:c.673G>A, NM_173193.3:c.598G>A, NM_173193.2:c.598G>A, NM_173195.3:c.577G>A, NM_173195.2:c.577G>A, NM_173194.3:c.592G>A, NM_173194.2:c.592G>A, NM_173197.3:c.469G>A, NM_173197.2:c.469G>A, XM_006717812.3:c.727G>A, XM_006717812.2:c.727G>A, XM_006717812.1:c.727G>A, XM_005269729.3:c.673G>A, XM_005269729.2:c.673G>A, XM_005269729.1:c.673G>A, XM_005269730.3:c.577G>A, XM_005269730.2:c.577G>A, XM_005269730.1:c.577G>A, XM_011539731.3:c.592G>A, XM_011539731.2:c.592G>A, XM_011539731.1:c.592G>A, NM_173342.2:c.*353G>A, XM_017016161.2:c.607G>A, XM_017016161.1:c.607G>A, NM_173342.1:c.*353G>A, NP_055406.2:p.Val258Met, NP_775283.1:p.Val243Met, NP_775284.1:p.Val225Met, NP_775285.1:p.Val200Met, NP_775287.1:p.Val193Met, NP_775286.1:p.Val198Met, NP_775289.1:p.Val157Met, XP_006717875.1:p.Val243Met, XP_005269786.1:p.Val225Met, XP_005269787.1:p.Val193Met, XP_011538033.1:p.Val198Met, XP_016871650.1:p.Val203Met

Select item 144096050213.

rs1440960502 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:101828669 (GRCh38)
10:103588426 (GRCh37)
Canonical SPDI:: NC_000010.11:101828668:C:T
Gene:: KCNIP2 (Varview), KCNIP2-AS1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.101828669C>T, NC_000010.10:g.103588426C>T, NG_029836.1:g.20252G>A, NM_014591.5:c.421G>A, NM_014591.4:c.421G>A, NM_173191.3:c.376G>A, NM_173191.2:c.376G>A, NM_173192.3:c.322G>A, NM_173192.2:c.322G>A, NM_173193.3:c.247G>A, NM_173193.2:c.247G>A, NM_173195.3:c.226G>A, NM_173195.2:c.226G>A, NM_173194.3:c.241G>A, NM_173194.2:c.241G>A, NM_173197.3:c.226G>A, NM_173197.2:c.226G>A, XM_006717812.3:c.376G>A, XM_006717812.2:c.376G>A, XM_006717812.1:c.376G>A, XM_005269729.3:c.322G>A, XM_005269729.2:c.322G>A, XM_005269729.1:c.322G>A, XM_005269730.3:c.226G>A, XM_005269730.2:c.226G>A, XM_005269730.1:c.226G>A, XM_011539731.3:c.241G>A, XM_011539731.2:c.241G>A, XM_011539731.1:c.241G>A, NM_173342.2:c.*2G>A, XM_017016161.2:c.256G>A, XM_017016161.1:c.256G>A, NM_173342.1:c.*2G>A, NR_045118.1:n.750C>T, NP_055406.2:p.Glu141Lys, NP_775283.1:p.Glu126Lys, NP_775284.1:p.Glu108Lys, NP_775285.1:p.Glu83Lys, NP_775287.1:p.Glu76Lys, NP_775286.1:p.Glu81Lys, NP_775289.1:p.Glu76Lys, XP_006717875.1:p.Glu126Lys, XP_005269786.1:p.Glu108Lys, XP_005269787.1:p.Glu76Lys, XP_011538033.1:p.Glu81Lys, XP_016871650.1:p.Glu86Lys

Select item 144039116314.

rs1440391163 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:101829845 (GRCh38)
10:103589602 (GRCh37)
Canonical SPDI:: NC_000010.11:101829844:T:C
Gene:: KCNIP2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/1 (GnomAD)
HGVS:: NC_000010.11:g.101829845T>C, NC_000010.10:g.103589602T>C, NG_029836.1:g.19076A>G, NM_014591.5:c.267A>G, NM_014591.4:c.267A>G, NM_173191.3:c.222A>G, NM_173191.2:c.222A>G, XM_006717812.3:c.222A>G, XM_006717812.2:c.222A>G, XM_006717812.1:c.222A>G, NM_173342.2:c.267A>G, NM_173342.1:c.267A>G

Select item 143599786915.

rs1435997869 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:101827931 (GRCh38)
10:103587688 (GRCh37)
Canonical SPDI:: NC_000010.11:101827930:G:C
Gene:: KCNIP2 (Varview), KCNIP2-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.101827931G>C, NC_000010.10:g.103587688G>C, NG_029836.1:g.20990C>G, NM_014591.5:c.705C>G, NM_014591.4:c.705C>G, NM_173191.3:c.660C>G, NM_173191.2:c.660C>G, NM_173192.3:c.606C>G, NM_173192.2:c.606C>G, NM_173193.3:c.531C>G, NM_173193.2:c.531C>G, NM_173195.3:c.510C>G, NM_173195.2:c.510C>G, NM_173194.3:c.525C>G, NM_173194.2:c.525C>G, NM_173197.3:c.402C>G, NM_173197.2:c.402C>G, XM_006717812.3:c.660C>G, XM_006717812.2:c.660C>G, XM_006717812.1:c.660C>G, XM_005269729.3:c.606C>G, XM_005269729.2:c.606C>G, XM_005269729.1:c.606C>G, XM_005269730.3:c.510C>G, XM_005269730.2:c.510C>G, XM_005269730.1:c.510C>G, XM_011539731.3:c.525C>G, XM_011539731.2:c.525C>G, XM_011539731.1:c.525C>G, NM_173342.2:c.*286C>G, XM_017016161.2:c.540C>G, XM_017016161.1:c.540C>G, NM_173342.1:c.*286C>G, NR_045118.1:n.253G>C

Select item 143439107216.

rs1434391072 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:101828215 (GRCh38)
10:103587972 (GRCh37)
Canonical SPDI:: NC_000010.11:101828214:T:G
Gene:: KCNIP2 (Varview), KCNIP2-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.101828215T>G, NC_000010.10:g.103587972T>G, NG_029836.1:g.20706A>C, NM_014591.5:c.578A>C, NM_014591.4:c.578A>C, NM_173191.3:c.533A>C, NM_173191.2:c.533A>C, NM_173192.3:c.479A>C, NM_173192.2:c.479A>C, NM_173193.3:c.404A>C, NM_173193.2:c.404A>C, NM_173195.3:c.383A>C, NM_173195.2:c.383A>C, NM_173194.3:c.398A>C, NM_173194.2:c.398A>C, XM_006717812.3:c.533A>C, XM_006717812.2:c.533A>C, XM_006717812.1:c.533A>C, XM_005269729.3:c.479A>C, XM_005269729.2:c.479A>C, XM_005269729.1:c.479A>C, XM_005269730.3:c.383A>C, XM_005269730.2:c.383A>C, XM_005269730.1:c.383A>C, XM_011539731.3:c.398A>C, XM_011539731.2:c.398A>C, XM_011539731.1:c.398A>C, NM_173342.2:c.*159A>C, XM_017016161.2:c.413A>C, XM_017016161.1:c.413A>C, NM_173342.1:c.*159A>C, NR_045118.1:n.296T>G, NP_055406.2:p.Asp193Ala, NP_775283.1:p.Asp178Ala, NP_775284.1:p.Asp160Ala, NP_775285.1:p.Asp135Ala, NP_775287.1:p.Asp128Ala, NP_775286.1:p.Asp133Ala, XP_006717875.1:p.Asp178Ala, XP_005269786.1:p.Asp160Ala, XP_005269787.1:p.Asp128Ala, XP_011538033.1:p.Asp133Ala, XP_016871650.1:p.Asp138Ala

Select item 141846500517.

rs1418465005 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:101843506 (GRCh38)
10:103603263 (GRCh37)
Canonical SPDI:: NC_000010.11:101843505:G:A
Gene:: KCNIP2 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.101843506G>A, NC_000010.10:g.103603263G>A, NG_029836.1:g.5415C>T, NM_014591.5:c.63C>T, NM_014591.4:c.63C>T, NM_173191.3:c.63C>T, NM_173191.2:c.63C>T, NM_173192.3:c.63C>T, NM_173192.2:c.63C>T, NM_173193.3:c.63C>T, NM_173193.2:c.63C>T, NM_173195.3:c.63C>T, NM_173195.2:c.63C>T, NM_173197.3:c.63C>T, NM_173197.2:c.63C>T, XM_006717812.3:c.63C>T, XM_006717812.2:c.63C>T, XM_006717812.1:c.63C>T, XM_005269729.3:c.63C>T, XM_005269729.2:c.63C>T, XM_005269729.1:c.63C>T, XM_005269730.3:c.63C>T, XM_005269730.2:c.63C>T, XM_005269730.1:c.63C>T, NM_173342.2:c.63C>T, NM_173342.1:c.63C>T

Select item 141355120518.

rs1413551205 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:101831136 (GRCh38)
10:103590893 (GRCh37)
Canonical SPDI:: NC_000010.11:101831135:C:T
Gene:: KCNIP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000010.11:g.101831136C>T, NC_000010.10:g.103590893C>T, NG_029836.1:g.17785G>A, NM_014591.5:c.105G>A, NM_014591.4:c.105G>A, NM_173191.3:c.105G>A, NM_173191.2:c.105G>A, NM_173192.3:c.105G>A, NM_173192.2:c.105G>A, XM_006717812.3:c.105G>A, XM_006717812.2:c.105G>A, XM_006717812.1:c.105G>A, XM_005269729.3:c.105G>A, XM_005269729.2:c.105G>A, XM_005269729.1:c.105G>A, NM_173342.2:c.105G>A, NM_173342.1:c.105G>A

Select item 141209989619.

rs1412099896 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:101843564 (GRCh38)
10:103603321 (GRCh37)
Canonical SPDI:: NC_000010.11:101843563:C:T
Gene:: KCNIP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000106/2 (TOMMO)
HGVS:: NC_000010.11:g.101843564C>T, NC_000010.10:g.103603321C>T, NG_029836.1:g.5357G>A, NM_014591.5:c.5G>A, NM_014591.4:c.5G>A, NM_173191.3:c.5G>A, NM_173191.2:c.5G>A, NM_173192.3:c.5G>A, NM_173192.2:c.5G>A, NM_173193.3:c.5G>A, NM_173193.2:c.5G>A, NM_173195.3:c.5G>A, NM_173195.2:c.5G>A, NM_173197.3:c.5G>A, NM_173197.2:c.5G>A, XM_006717812.3:c.5G>A, XM_006717812.2:c.5G>A, XM_006717812.1:c.5G>A, XM_005269729.3:c.5G>A, XM_005269729.2:c.5G>A, XM_005269729.1:c.5G>A, XM_005269730.3:c.5G>A, XM_005269730.2:c.5G>A, XM_005269730.1:c.5G>A, NM_173342.2:c.5G>A, NM_173342.1:c.5G>A, NP_055406.2:p.Arg2Gln, NP_775283.1:p.Arg2Gln, NP_775284.1:p.Arg2Gln, NP_775285.1:p.Arg2Gln, NP_775287.1:p.Arg2Gln, NP_775289.1:p.Arg2Gln, XP_006717875.1:p.Arg2Gln, XP_005269786.1:p.Arg2Gln, XP_005269787.1:p.Arg2Gln

Select item 140985271120.

rs1409852711 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGGGAGGCTGGGGCGG>- [Show Flanks]
Chromosome:: 10:101829876 (GRCh38)
10:103589633 (GRCh37)
Canonical SPDI:: NC_000010.11:101829868:GGGGCGGAGGGAGGCTGGGGCGG:GGGGCGG
Gene:: KCNIP2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGCGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.101829876_101829891del, NC_000010.10:g.103589633_103589648del, NG_029836.1:g.19037_19052del, NM_014591.5:c.228_243del, NM_014591.4:c.228_243del, NM_173191.3:c.183_198del, NM_173191.2:c.183_198del, XM_006717812.3:c.183_198del, XM_006717812.2:c.183_198del, XM_006717812.1:c.183_198del, NM_173342.2:c.228_243del, NM_173342.1:c.228_243del, NP_055406.2:p.Ala77fs, NP_775283.1:p.Ala62fs, XP_006717875.1:p.Ala62fs

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 217

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 217

Page of 11

Page of 11

Display Settings:

Supplemental Content

Find related data

Recent activity