SNP Links for Protein (Select 1034578315) - SNP

Links from Protein

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Select item 14839351391.

rs1483935139 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:119505159 (GRCh38)
12:119942964 (GRCh37)
Canonical SPDI:: NC_000012.12:119505158:G:C
Gene:: CCDC60 (Varview), LOC105370027 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.119505159G>C, NC_000012.11:g.119942964G>C, NM_178499.5:c.739G>C, NM_178499.4:c.739G>C, NM_178499.3:c.739G>C, XM_017018911.3:c.631G>C, XM_017018911.2:c.631G>C, XM_017018911.1:c.631G>C, XM_017018912.3:c.739G>C, XM_017018912.2:c.739G>C, XM_017018912.1:c.739G>C, XM_017018913.3:c.739G>C, XM_017018913.2:c.739G>C, XM_017018913.1:c.739G>C, XM_017018914.2:c.211G>C, XM_017018914.1:c.211G>C, XM_017018915.2:c.67G>C, XM_017018915.1:c.67G>C, XM_017018916.2:c.67G>C, XM_017018916.1:c.67G>C, XM_047428445.1:c.739G>C, NP_848594.2:p.Gly247Arg, XP_016874400.1:p.Gly211Arg, XP_016874401.1:p.Gly247Arg, XP_016874402.1:p.Gly247Arg, XP_016874403.1:p.Gly71Arg, XP_016874404.1:p.Gly23Arg, XP_016874405.1:p.Gly23Arg, XP_047284401.1:p.Gly247Arg

Select item 14835847512.

rs1483584751 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:119523753 (GRCh38)
12:119961558 (GRCh37)
Canonical SPDI:: NC_000012.12:119523752:C:T
Gene:: CCDC60 (Varview), LOC105370027 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.119523753C>T, NC_000012.11:g.119961558C>T, NM_178499.5:c.1164C>T, NM_178499.4:c.1164C>T, NM_178499.3:c.1164C>T, XM_017018911.3:c.1056C>T, XM_017018911.2:c.1056C>T, XM_017018911.1:c.1056C>T, XM_017018912.3:c.1164C>T, XM_017018912.2:c.1164C>T, XM_017018912.1:c.1164C>T, XM_017018914.2:c.636C>T, XM_017018914.1:c.636C>T, XM_017018915.2:c.492C>T, XM_017018915.1:c.492C>T, XM_017018916.2:c.492C>T, XM_017018916.1:c.492C>T, XM_047428445.1:c.1164C>T

Select item 14835339193.

rs1483533919 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:119505227 (GRCh38)
12:119943032 (GRCh37)
Canonical SPDI:: NC_000012.12:119505226:C:G
Gene:: CCDC60 (Varview), LOC105370027 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.119505227C>G, NC_000012.11:g.119943032C>G, NM_178499.5:c.807C>G, NM_178499.4:c.807C>G, NM_178499.3:c.807C>G, XM_017018911.3:c.699C>G, XM_017018911.2:c.699C>G, XM_017018911.1:c.699C>G, XM_017018912.3:c.807C>G, XM_017018912.2:c.807C>G, XM_017018912.1:c.807C>G, XM_017018913.3:c.807C>G, XM_017018913.2:c.807C>G, XM_017018913.1:c.807C>G, XM_017018914.2:c.279C>G, XM_017018914.1:c.279C>G, XM_017018915.2:c.135C>G, XM_017018915.1:c.135C>G, XM_017018916.2:c.135C>G, XM_017018916.1:c.135C>G, XM_047428445.1:c.807C>G

Select item 14810785604.

rs1481078560 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:119528676 (GRCh38)
12:119966481 (GRCh37)
Canonical SPDI:: NC_000012.12:119528675:A:G
Gene:: CCDC60 (Varview), LOC105370027 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.119528676A>G, NC_000012.11:g.119966481A>G, NM_178499.5:c.1291A>G, NM_178499.4:c.1291A>G, NM_178499.3:c.1291A>G, XM_017018911.3:c.1183A>G, XM_017018911.2:c.1183A>G, XM_017018911.1:c.1183A>G, XM_017018914.2:c.763A>G, XM_017018914.1:c.763A>G, XM_017018915.2:c.619A>G, XM_017018915.1:c.619A>G, XM_017018916.2:c.619A>G, XM_017018916.1:c.619A>G, NP_848594.2:p.Lys431Glu, XP_016874400.1:p.Lys395Glu, XP_016874403.1:p.Lys255Glu, XP_016874404.1:p.Lys207Glu, XP_016874405.1:p.Lys207Glu

Select item 14806349875.

rs1480634987 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:119520136 (GRCh38)
12:119957941 (GRCh37)
Canonical SPDI:: NC_000012.12:119520135:G:A
Gene:: CCDC60 (Varview), LOC105370027 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.119520136G>A, NC_000012.11:g.119957941G>A, NM_178499.5:c.984G>A, NM_178499.4:c.984G>A, NM_178499.3:c.984G>A, XM_017018911.3:c.876G>A, XM_017018911.2:c.876G>A, XM_017018911.1:c.876G>A, XM_017018912.3:c.984G>A, XM_017018912.2:c.984G>A, XM_017018912.1:c.984G>A, XM_017018914.2:c.456G>A, XM_017018914.1:c.456G>A, XM_017018915.2:c.312G>A, XM_017018915.1:c.312G>A, XM_017018916.2:c.312G>A, XM_017018916.1:c.312G>A, XM_047428445.1:c.984G>A

Select item 14787654466.

rs1478765446 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:119505199 (GRCh38)
12:119943004 (GRCh37)
Canonical SPDI:: NC_000012.12:119505198:G:C
Gene:: CCDC60 (Varview), LOC105370027 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.119505199G>C, NC_000012.11:g.119943004G>C, NM_178499.5:c.779G>C, NM_178499.4:c.779G>C, NM_178499.3:c.779G>C, XM_017018911.3:c.671G>C, XM_017018911.2:c.671G>C, XM_017018911.1:c.671G>C, XM_017018912.3:c.779G>C, XM_017018912.2:c.779G>C, XM_017018912.1:c.779G>C, XM_017018913.3:c.779G>C, XM_017018913.2:c.779G>C, XM_017018913.1:c.779G>C, XM_017018914.2:c.251G>C, XM_017018914.1:c.251G>C, XM_017018915.2:c.107G>C, XM_017018915.1:c.107G>C, XM_017018916.2:c.107G>C, XM_017018916.1:c.107G>C, XM_047428445.1:c.779G>C, NP_848594.2:p.Gly260Ala, XP_016874400.1:p.Gly224Ala, XP_016874401.1:p.Gly260Ala, XP_016874402.1:p.Gly260Ala, XP_016874403.1:p.Gly84Ala, XP_016874404.1:p.Gly36Ala, XP_016874405.1:p.Gly36Ala, XP_047284401.1:p.Gly260Ala

Select item 14776453157.

rs1477645315 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:119530931 (GRCh38)
12:119968736 (GRCh37)
Canonical SPDI:: NC_000012.12:119530930:A:G
Gene:: CCDC60 (Varview), LOC105370027 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.119530931A>G, NC_000012.11:g.119968736A>G, NM_178499.5:c.1419A>G, NM_178499.4:c.1419A>G, NM_178499.3:c.1419A>G, XM_017018911.3:c.1311A>G, XM_017018911.2:c.1311A>G, XM_017018911.1:c.1311A>G, XM_017018912.3:c.1287A>G, XM_017018912.2:c.1287A>G, XM_017018912.1:c.1287A>G, XM_017018913.3:c.1026A>G, XM_017018913.2:c.1026A>G, XM_017018913.1:c.1026A>G, XM_017018914.2:c.891A>G, XM_017018914.1:c.891A>G, XM_017018915.2:c.747A>G, XM_017018915.1:c.747A>G, XM_017018916.2:c.747A>G, XM_017018916.1:c.747A>G

Select item 14735258268.

rs1473525826 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:119505101 (GRCh38)
12:119942906 (GRCh37)
Canonical SPDI:: NC_000012.12:119505100:C:T
Gene:: CCDC60 (Varview), LOC105370027 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.119505101C>T, NC_000012.11:g.119942906C>T, NM_178499.5:c.681C>T, NM_178499.4:c.681C>T, NM_178499.3:c.681C>T, XM_017018911.3:c.573C>T, XM_017018911.2:c.573C>T, XM_017018911.1:c.573C>T, XM_017018912.3:c.681C>T, XM_017018912.2:c.681C>T, XM_017018912.1:c.681C>T, XM_017018913.3:c.681C>T, XM_017018913.2:c.681C>T, XM_017018913.1:c.681C>T, XM_017018914.2:c.153C>T, XM_017018914.1:c.153C>T, XM_017018915.2:c.9C>T, XM_017018915.1:c.9C>T, XM_017018916.2:c.9C>T, XM_017018916.1:c.9C>T, XM_047428445.1:c.681C>T

Select item 14719390239.

rs1471939023 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:119528636 (GRCh38)
12:119966441 (GRCh37)
Canonical SPDI:: NC_000012.12:119528635:C:G
Gene:: CCDC60 (Varview), LOC105370027 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.119528636C>G, NC_000012.11:g.119966441C>G, NM_178499.5:c.1251C>G, NM_178499.4:c.1251C>G, NM_178499.3:c.1251C>G, XM_017018911.3:c.1143C>G, XM_017018911.2:c.1143C>G, XM_017018911.1:c.1143C>G, XM_017018914.2:c.723C>G, XM_017018914.1:c.723C>G, XM_017018915.2:c.579C>G, XM_017018915.1:c.579C>G, XM_017018916.2:c.579C>G, XM_017018916.1:c.579C>G, NP_848594.2:p.Ile417Met, XP_016874400.1:p.Ile381Met, XP_016874403.1:p.Ile241Met, XP_016874404.1:p.Ile193Met, XP_016874405.1:p.Ile193Met

Select item 147155696410.

rs1471556964 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:119522957 (GRCh38)
12:119960762 (GRCh37)
Canonical SPDI:: NC_000012.12:119522956:A:G
Gene:: CCDC60 (Varview), LOC105370027 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.119522957A>G, NC_000012.11:g.119960762A>G, NM_178499.5:c.1059A>G, NM_178499.4:c.1059A>G, NM_178499.3:c.1059A>G, XM_017018911.3:c.951A>G, XM_017018911.2:c.951A>G, XM_017018911.1:c.951A>G, XM_017018912.3:c.1059A>G, XM_017018912.2:c.1059A>G, XM_017018912.1:c.1059A>G, XM_017018914.2:c.531A>G, XM_017018914.1:c.531A>G, XM_017018915.2:c.387A>G, XM_017018915.1:c.387A>G, XM_017018916.2:c.387A>G, XM_017018916.1:c.387A>G, XM_047428445.1:c.1059A>G

Select item 146993085611.

rs1469930856 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:119505180 (GRCh38)
12:119942985 (GRCh37)
Canonical SPDI:: NC_000012.12:119505179:A:C
Gene:: CCDC60 (Varview), LOC105370027 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.119505180A>C, NC_000012.11:g.119942985A>C, NM_178499.5:c.760A>C, NM_178499.4:c.760A>C, NM_178499.3:c.760A>C, XM_017018911.3:c.652A>C, XM_017018911.2:c.652A>C, XM_017018911.1:c.652A>C, XM_017018912.3:c.760A>C, XM_017018912.2:c.760A>C, XM_017018912.1:c.760A>C, XM_017018913.3:c.760A>C, XM_017018913.2:c.760A>C, XM_017018913.1:c.760A>C, XM_017018914.2:c.232A>C, XM_017018914.1:c.232A>C, XM_017018915.2:c.88A>C, XM_017018915.1:c.88A>C, XM_017018916.2:c.88A>C, XM_017018916.1:c.88A>C, XM_047428445.1:c.760A>C, NP_848594.2:p.Met254Leu, XP_016874400.1:p.Met218Leu, XP_016874401.1:p.Met254Leu, XP_016874402.1:p.Met254Leu, XP_016874403.1:p.Met78Leu, XP_016874404.1:p.Met30Leu, XP_016874405.1:p.Met30Leu, XP_047284401.1:p.Met254Leu

Select item 146809243012.

rs1468092430 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:119523780 (GRCh38)
12:119961585 (GRCh37)
Canonical SPDI:: NC_000012.12:119523779:T:A
Gene:: CCDC60 (Varview), LOC105370027 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.119523780T>A, NC_000012.11:g.119961585T>A, NM_178499.5:c.1191T>A, NM_178499.4:c.1191T>A, NM_178499.3:c.1191T>A, XM_017018911.3:c.1083T>A, XM_017018911.2:c.1083T>A, XM_017018911.1:c.1083T>A, XM_017018912.3:c.1191T>A, XM_017018912.2:c.1191T>A, XM_017018912.1:c.1191T>A, XM_017018914.2:c.663T>A, XM_017018914.1:c.663T>A, XM_017018915.2:c.519T>A, XM_017018915.1:c.519T>A, XM_017018916.2:c.519T>A, XM_017018916.1:c.519T>A, XM_047428445.1:c.1191T>A

Select item 146801320213.

rs1468013202 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:119505254 (GRCh38)
12:119943059 (GRCh37)
Canonical SPDI:: NC_000012.12:119505253:G:A
Gene:: CCDC60 (Varview), LOC105370027 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.119505254G>A, NC_000012.11:g.119943059G>A, NM_178499.5:c.834G>A, NM_178499.4:c.834G>A, NM_178499.3:c.834G>A, XM_017018911.3:c.726G>A, XM_017018911.2:c.726G>A, XM_017018911.1:c.726G>A, XM_017018912.3:c.834G>A, XM_017018912.2:c.834G>A, XM_017018912.1:c.834G>A, XM_017018913.3:c.834G>A, XM_017018913.2:c.834G>A, XM_017018913.1:c.834G>A, XM_017018914.2:c.306G>A, XM_017018914.1:c.306G>A, XM_017018915.2:c.162G>A, XM_017018915.1:c.162G>A, XM_017018916.2:c.162G>A, XM_017018916.1:c.162G>A, XM_047428445.1:c.834G>A

Select item 146424123014.

rs1464241230 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:119500133 (GRCh38)
12:119937938 (GRCh37)
Canonical SPDI:: NC_000012.12:119500132:G:A
Gene:: CCDC60 (Varview), LOC105370027 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000177/3 (TOMMO)
HGVS:: NC_000012.12:g.119500133G>A, NC_000012.11:g.119937938G>A, NM_178499.5:c.613G>A, NM_178499.4:c.613G>A, NM_178499.3:c.613G>A, XM_017018911.3:c.505G>A, XM_017018911.2:c.505G>A, XM_017018911.1:c.505G>A, XM_017018912.3:c.613G>A, XM_017018912.2:c.613G>A, XM_017018912.1:c.613G>A, XM_017018913.3:c.613G>A, XM_017018913.2:c.613G>A, XM_017018913.1:c.613G>A, XM_017018914.2:c.85G>A, XM_017018914.1:c.85G>A, XM_047428445.1:c.613G>A, NP_848594.2:p.Gly205Arg, XP_016874400.1:p.Gly169Arg, XP_016874401.1:p.Gly205Arg, XP_016874402.1:p.Gly205Arg, XP_016874403.1:p.Gly29Arg, XP_047284401.1:p.Gly205Arg

Select item 146350618615.

rs1463506186 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:119531063 (GRCh38)
12:119968868 (GRCh37)
Canonical SPDI:: NC_000012.12:119531062:G:A
Gene:: CCDC60 (Varview), LOC105370027 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.119531063G>A, NC_000012.11:g.119968868G>A, NM_178499.5:c.1551G>A, NM_178499.4:c.1551G>A, NM_178499.3:c.1551G>A, XM_017018911.3:c.1443G>A, XM_017018911.2:c.1443G>A, XM_017018911.1:c.1443G>A, XM_017018912.3:c.1419G>A, XM_017018912.2:c.1419G>A, XM_017018912.1:c.1419G>A, XM_017018913.3:c.1158G>A, XM_017018913.2:c.1158G>A, XM_017018913.1:c.1158G>A, XM_017018914.2:c.1023G>A, XM_017018914.1:c.1023G>A, XM_017018915.2:c.879G>A, XM_017018915.1:c.879G>A, XM_017018916.2:c.879G>A, XM_017018916.1:c.879G>A

Select item 146187332916.

rs1461873329 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 12:119505219 (GRCh38)
12:119943024 (GRCh37)
Canonical SPDI:: NC_000012.12:119505218:G:
Gene:: CCDC60 (Varview), LOC105370027 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,stop_gained,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.119505219del, NC_000012.11:g.119943024del, NM_178499.5:c.799del, NM_178499.4:c.799del, NM_178499.3:c.799del, XM_017018911.3:c.691del, XM_017018911.2:c.691del, XM_017018911.1:c.691del, XM_017018912.3:c.799del, XM_017018912.2:c.799del, XM_017018912.1:c.799del, XM_017018913.3:c.799del, XM_017018913.2:c.799del, XM_017018913.1:c.799del, XM_017018914.2:c.271del, XM_017018914.1:c.271del, XM_017018915.2:c.127del, XM_017018915.1:c.127del, XM_017018916.2:c.127del, XM_017018916.1:c.127del, XM_047428445.1:c.799del, NP_848594.2:p.Ser266_Val267insTer, XP_016874400.1:p.Ser230_Val231insTer, XP_016874401.1:p.Ser266_Val267insTer, XP_016874402.1:p.Ser266_Val267insTer, XP_016874403.1:p.Ser90_Val91insTer, XP_016874404.1:p.Ser42_Val43insTer, XP_016874405.1:p.Ser42_Val43insTer, XP_047284401.1:p.Ser266_Val267insTer

Select item 146165789417.

rs1461657894 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 12:119505183 (GRCh38)
12:119942988 (GRCh37)
Canonical SPDI:: NC_000012.12:119505182:A:G,NC_000012.12:119505182:A:T
Gene:: CCDC60 (Varview), LOC105370027 (Varview)
Functional Consequence:: intron_variant,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 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.119505183A>G, NC_000012.12:g.119505183A>T, NC_000012.11:g.119942988A>G, NC_000012.11:g.119942988A>T, NM_178499.5:c.763A>G, NM_178499.5:c.763A>T, NM_178499.4:c.763A>G, NM_178499.4:c.763A>T, NM_178499.3:c.763A>G, NM_178499.3:c.763A>T, XM_017018911.3:c.655A>G, XM_017018911.3:c.655A>T, XM_017018911.2:c.655A>G, XM_017018911.2:c.655A>T, XM_017018911.1:c.655A>G, XM_017018911.1:c.655A>T, XM_017018912.3:c.763A>G, XM_017018912.3:c.763A>T, XM_017018912.2:c.763A>G, XM_017018912.2:c.763A>T, XM_017018912.1:c.763A>G, XM_017018912.1:c.763A>T, XM_017018913.3:c.763A>G, XM_017018913.3:c.763A>T, XM_017018913.2:c.763A>G, XM_017018913.2:c.763A>T, XM_017018913.1:c.763A>G, XM_017018913.1:c.763A>T, XM_017018914.2:c.235A>G, XM_017018914.2:c.235A>T, XM_017018914.1:c.235A>G, XM_017018914.1:c.235A>T, XM_017018915.2:c.91A>G, XM_017018915.2:c.91A>T, XM_017018915.1:c.91A>G, XM_017018915.1:c.91A>T, XM_017018916.2:c.91A>G, XM_017018916.2:c.91A>T, XM_017018916.1:c.91A>G, XM_017018916.1:c.91A>T, XM_047428445.1:c.763A>G, XM_047428445.1:c.763A>T, NP_848594.2:p.Ile255Val, NP_848594.2:p.Ile255Phe, XP_016874400.1:p.Ile219Val, XP_016874400.1:p.Ile219Phe, XP_016874401.1:p.Ile255Val, XP_016874401.1:p.Ile255Phe, XP_016874402.1:p.Ile255Val, XP_016874402.1:p.Ile255Phe, XP_016874403.1:p.Ile79Val, XP_016874403.1:p.Ile79Phe, XP_016874404.1:p.Ile31Val, XP_016874404.1:p.Ile31Phe, XP_016874405.1:p.Ile31Val, XP_016874405.1:p.Ile31Phe, XP_047284401.1:p.Ile255Val, XP_047284401.1:p.Ile255Phe

Select item 145677457718.

rs1456774577 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:119530935 (GRCh38)
12:119968740 (GRCh37)
Canonical SPDI:: NC_000012.12:119530934:A:T
Gene:: CCDC60 (Varview), LOC105370027 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_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)
HGVS:: NC_000012.12:g.119530935A>T, NC_000012.11:g.119968740A>T, NM_178499.5:c.1423A>T, NM_178499.4:c.1423A>T, NM_178499.3:c.1423A>T, XM_017018911.3:c.1315A>T, XM_017018911.2:c.1315A>T, XM_017018911.1:c.1315A>T, XM_017018912.3:c.1291A>T, XM_017018912.2:c.1291A>T, XM_017018912.1:c.1291A>T, XM_017018913.3:c.1030A>T, XM_017018913.2:c.1030A>T, XM_017018913.1:c.1030A>T, XM_017018914.2:c.895A>T, XM_017018914.1:c.895A>T, XM_017018915.2:c.751A>T, XM_017018915.1:c.751A>T, XM_017018916.2:c.751A>T, XM_017018916.1:c.751A>T, NP_848594.2:p.Ile475Phe, XP_016874400.1:p.Ile439Phe, XP_016874401.1:p.Ile431Phe, XP_016874402.1:p.Ile344Phe, XP_016874403.1:p.Ile299Phe, XP_016874404.1:p.Ile251Phe, XP_016874405.1:p.Ile251Phe

Select item 145573224719.

rs1455732247 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:119530948 (GRCh38)
12:119968753 (GRCh37)
Canonical SPDI:: NC_000012.12:119530947:T:C
Gene:: CCDC60 (Varview), LOC105370027 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
HGVS:: NC_000012.12:g.119530948T>C, NC_000012.11:g.119968753T>C, NM_178499.5:c.1436T>C, NM_178499.4:c.1436T>C, NM_178499.3:c.1436T>C, XM_017018911.3:c.1328T>C, XM_017018911.2:c.1328T>C, XM_017018911.1:c.1328T>C, XM_017018912.3:c.1304T>C, XM_017018912.2:c.1304T>C, XM_017018912.1:c.1304T>C, XM_017018913.3:c.1043T>C, XM_017018913.2:c.1043T>C, XM_017018913.1:c.1043T>C, XM_017018914.2:c.908T>C, XM_017018914.1:c.908T>C, XM_017018915.2:c.764T>C, XM_017018915.1:c.764T>C, XM_017018916.2:c.764T>C, XM_017018916.1:c.764T>C, NP_848594.2:p.Leu479Pro, XP_016874400.1:p.Leu443Pro, XP_016874401.1:p.Leu435Pro, XP_016874402.1:p.Leu348Pro, XP_016874403.1:p.Leu303Pro, XP_016874404.1:p.Leu255Pro, XP_016874405.1:p.Leu255Pro

Select item 145109193920.

rs1451091939 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:119531058 (GRCh38)
12:119968863 (GRCh37)
Canonical SPDI:: NC_000012.12:119531057:A:G
Gene:: CCDC60 (Varview), LOC105370027 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.119531058A>G, NC_000012.11:g.119968863A>G, NM_178499.5:c.1546A>G, NM_178499.4:c.1546A>G, NM_178499.3:c.1546A>G, XM_017018911.3:c.1438A>G, XM_017018911.2:c.1438A>G, XM_017018911.1:c.1438A>G, XM_017018912.3:c.1414A>G, XM_017018912.2:c.1414A>G, XM_017018912.1:c.1414A>G, XM_017018913.3:c.1153A>G, XM_017018913.2:c.1153A>G, XM_017018913.1:c.1153A>G, XM_017018914.2:c.1018A>G, XM_017018914.1:c.1018A>G, XM_017018915.2:c.874A>G, XM_017018915.1:c.874A>G, XM_017018916.2:c.874A>G, XM_017018916.1:c.874A>G, NP_848594.2:p.Ile516Val, XP_016874400.1:p.Ile480Val, XP_016874401.1:p.Ile472Val, XP_016874402.1:p.Ile385Val, XP_016874403.1:p.Ile340Val, XP_016874404.1:p.Ile292Val, XP_016874405.1:p.Ile292Val

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