SNP Links for Protein (Select 11128025) - SNP

Links from Protein

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Select item 14872019571.

rs1487201957 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:141486499 (GRCh38)
5:140866066 (GRCh37)
Canonical SPDI:: NC_000005.10:141486498:C:G,NC_000005.10:141486498:C:T
Gene:: PCDHGC3 (Varview), PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGA12 (Varview), PCDHGC4 (Varview), PCDHGB7 (Varview), PCDHGB6 (Varview), PCDHGB5 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA11 (Varview), PCDHGA10 (Varview), PCDHGA9 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141486499C>G, NC_000005.10:g.141486499C>T, NC_000005.9:g.140866066C>G, NC_000005.9:g.140866066C>T, NG_000012.2:g.196696C>G, NG_000012.2:g.196696C>T, NG_050746.1:g.6326C>G, NG_050746.1:g.6326C>T, NM_018928.3:c.1326C>G, NM_018928.3:c.1326C>T, NM_018928.2:c.1326C>G, NM_018928.2:c.1326C>T, NM_032406.1:c.1326C>G, NM_032406.1:c.1326C>T, NP_061751.1:p.Phe442Leu, NP_115782.1:p.Phe442Leu

Select item 14859229012.

rs1485922901 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:141485466 (GRCh38)
5:140865033 (GRCh37)
Canonical SPDI:: NC_000005.10:141485465:T:C
Gene:: PCDHGC3 (Varview), PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGA12 (Varview), PCDHGC4 (Varview), PCDHGB7 (Varview), PCDHGB6 (Varview), PCDHGB5 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA11 (Varview), PCDHGA10 (Varview), PCDHGA9 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141485466T>C, NC_000005.9:g.140865033T>C, NG_000012.2:g.195663T>C, NG_050746.1:g.5293T>C, NM_018928.3:c.293T>C, NM_018928.2:c.293T>C, NM_032406.1:c.293T>C, NP_061751.1:p.Leu98Pro, NP_115782.1:p.Leu98Pro

Select item 14857648713.

rs1485764871 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 5:141486709 (GRCh38)
5:140866276 (GRCh37)
Canonical SPDI:: NC_000005.10:141486708:C:A,NC_000005.10:141486708:C:G
Gene:: PCDHGC3 (Varview), PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGA12 (Varview), PCDHGC4 (Varview), PCDHGB7 (Varview), PCDHGB6 (Varview), PCDHGB5 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA11 (Varview), PCDHGA10 (Varview), PCDHGA9 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.0001/1 (ALFA)
HGVS:: NC_000005.10:g.141486709C>A, NC_000005.10:g.141486709C>G, NC_000005.9:g.140866276C>A, NC_000005.9:g.140866276C>G, NG_000012.2:g.196906C>A, NG_000012.2:g.196906C>G, NG_050746.1:g.6536C>A, NG_050746.1:g.6536C>G, NM_018928.3:c.1536C>A, NM_018928.3:c.1536C>G, NM_018928.2:c.1536C>A, NM_018928.2:c.1536C>G, NM_032406.1:c.1536C>A, NM_032406.1:c.1536C>G

Select item 14857158124.

rs1485715812 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:141485804 (GRCh38)
5:140865371 (GRCh37)
Canonical SPDI:: NC_000005.10:141485803:G:T
Gene:: PCDHGC3 (Varview), PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGA12 (Varview), PCDHGC4 (Varview), PCDHGB7 (Varview), PCDHGB6 (Varview), PCDHGB5 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA11 (Varview), PCDHGA10 (Varview), PCDHGA9 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141485804G>T, NC_000005.9:g.140865371G>T, NG_000012.2:g.196001G>T, NG_050746.1:g.5631G>T, NM_018928.3:c.631G>T, NM_018928.2:c.631G>T, NM_032406.1:c.631G>T, NP_061751.1:p.Val211Leu, NP_115782.1:p.Val211Leu

Select item 14851673795.

rs1485167379 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141485881 (GRCh38)
5:140865448 (GRCh37)
Canonical SPDI:: NC_000005.10:141485880:C:T
Gene:: PCDHGC3 (Varview), PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGA12 (Varview), PCDHGC4 (Varview), PCDHGB7 (Varview), PCDHGB6 (Varview), PCDHGB5 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA11 (Varview), PCDHGA10 (Varview), PCDHGA9 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000062/2 (ALFA)
T=0./0 (KOREAN)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141485881C>T, NC_000005.9:g.140865448C>T, NG_000012.2:g.196078C>T, NG_050746.1:g.5708C>T, NM_018928.3:c.708C>T, NM_018928.2:c.708C>T, NM_032406.1:c.708C>T

Select item 14847877776.

rs1484787777 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 5:141486287 (GRCh38)
5:140865854 (GRCh37)
Canonical SPDI:: NC_000005.10:141486286:A:G,NC_000005.10:141486286:A:T
Gene:: PCDHGC3 (Varview), PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGA12 (Varview), PCDHGC4 (Varview), PCDHGB7 (Varview), PCDHGB6 (Varview), PCDHGB5 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA11 (Varview), PCDHGA10 (Varview), PCDHGA9 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141486287A>G, NC_000005.10:g.141486287A>T, NC_000005.9:g.140865854A>G, NC_000005.9:g.140865854A>T, NG_000012.2:g.196484A>G, NG_000012.2:g.196484A>T, NG_050746.1:g.6114A>G, NG_050746.1:g.6114A>T, NM_018928.3:c.1114A>G, NM_018928.3:c.1114A>T, NM_018928.2:c.1114A>G, NM_018928.2:c.1114A>T, NM_032406.1:c.1114A>G, NM_032406.1:c.1114A>T, NP_061751.1:p.Ile372Val, NP_061751.1:p.Ile372Phe, NP_115782.1:p.Ile372Val, NP_115782.1:p.Ile372Phe

Select item 14792515797.

rs1479251579 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141485446 (GRCh38)
5:140865013 (GRCh37)
Canonical SPDI:: NC_000005.10:141485445:C:T
Gene:: PCDHGC3 (Varview), PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGA12 (Varview), PCDHGC4 (Varview), PCDHGB7 (Varview), PCDHGB6 (Varview), PCDHGB5 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA11 (Varview), PCDHGA10 (Varview), PCDHGA9 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.141485446C>T, NC_000005.9:g.140865013C>T, NG_000012.2:g.195643C>T, NG_050746.1:g.5273C>T, NM_018928.3:c.273C>T, NM_018928.2:c.273C>T, NM_032406.1:c.273C>T

Select item 14790039838.

rs1479003983 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141485352 (GRCh38)
5:140864919 (GRCh37)
Canonical SPDI:: NC_000005.10:141485351:C:T
Gene:: PCDHGC3 (Varview), PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGA12 (Varview), PCDHGC4 (Varview), PCDHGB7 (Varview), PCDHGB6 (Varview), PCDHGB5 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA11 (Varview), PCDHGA10 (Varview), PCDHGA9 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141485352C>T, NC_000005.9:g.140864919C>T, NG_000012.2:g.195549C>T, NG_050746.1:g.5179C>T, NM_018928.3:c.179C>T, NM_018928.2:c.179C>T, NM_032406.1:c.179C>T, NP_061751.1:p.Ser60Leu, NP_115782.1:p.Ser60Leu

Select item 14771739879.

rs1477173987 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAG>- [Show Flanks]
Chromosome:: 5:141511162 (GRCh38)
5:140890729 (GRCh37)
Canonical SPDI:: NC_000005.10:141511159:AGGAG:AG
Gene:: PCDHGC3 (Varview), PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGA12 (Varview), PCDHGC5 (Varview), PCDHGC4 (Varview), PCDHGB7 (Varview), PCDHGB6 (Varview), PCDHGB5 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA11 (Varview), PCDHGA10 (Varview), PCDHGA9 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: inframe_deletion,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141511162_141511164del, NC_000005.9:g.140890729_140890731del, NG_000012.2:g.221359_221361del, NG_050746.1:g.30989_30991del, NM_018928.3:c.2806_2808del, NM_018928.2:c.2806_2808del, NM_001386884.1:c.376_378del, NM_018924.5:c.2779_2781del, NM_018924.4:c.2779_2781del, NM_018924.3:c.2779_2781del, NM_018924.2:c.2779_2781del, NM_018915.4:c.2788_2790del, NM_018915.3:c.2788_2790del, NM_018915.2:c.2788_2790del, NM_018916.4:c.2788_2790del, NM_018916.3:c.2788_2790del, NM_018917.4:c.2878_2880del, NM_018917.3:c.2878_2880del, NM_018917.2:c.2785_2787del, NM_018927.4:c.2779_2781del, NM_018927.3:c.2779_2781del, NM_003736.4:c.2761_2763del, NM_003736.3:c.2761_2763del, NM_003736.2:c.2761_2763del, NM_018920.4:c.2788_2790del, NM_018920.3:c.2788_2790del, NM_018920.2:c.2788_2790del, NM_002588.4:c.2794_2796del, NM_002588.3:c.2794_2796del, NM_002588.2:c.2794_2796del, NM_003735.3:c.2788_2790del, NM_003735.2:c.2788_2790del, NM_018913.3:c.2800_2802del, NM_018913.2:c.2800_2802del, NM_018929.3:c.2824_2826del, NM_018929.2:c.2824_2826del, NM_018919.3:c.2788_2790del, NM_018919.2:c.2788_2790del, NM_018914.3:c.2797_2799del, NM_018914.2:c.2797_2799del, NM_018926.3:c.2782_2784del, NM_018926.2:c.2782_2784del, NM_018921.3:c.2788_2790del, NM_018921.2:c.2788_2790del, NM_018912.3:c.2785_2787del, NM_018912.2:c.2785_2787del, NM_018918.3:c.2785_2787del, NM_018918.2:c.2785_2787del, NM_018925.3:c.2761_2763del, NM_018925.2:c.2761_2763del, NM_018922.3:c.2773_2775del, NM_018922.2:c.2773_2775del, NM_018923.3:c.2785_2787del, NM_018923.2:c.2785_2787del, NM_032403.3:c.394_396del, NM_032403.2:c.394_396del, NM_032403.1:c.394_396del, NM_032088.2:c.2788_2790del, NM_032088.1:c.2788_2790del, NM_032092.2:c.2242_2244del, NM_032092.1:c.2242_2244del, NP_061751.1:p.Glu936del, NP_001373813.1:p.Glu126del, NP_061747.2:p.Glu927del, NP_061738.1:p.Glu930del, NP_061739.2:p.Glu930del, NP_061740.2:p.Glu960del, NP_061750.1:p.Glu927del, NP_003727.1:p.Glu921del, NP_061743.1:p.Glu930del, NP_002579.2:p.Glu932del, NP_003726.1:p.Glu930del, NP_061736.1:p.Glu934del, NP_061752.1:p.Glu942del, NP_061742.1:p.Glu930del, NP_061737.1:p.Glu933del, NP_061749.1:p.Glu928del, NP_061744.1:p.Glu930del, NP_061735.1:p.Glu929del, NP_061741.1:p.Glu929del, NP_061748.1:p.Glu921del, NP_061745.1:p.Glu925del, NP_061746.1:p.Glu929del, NP_115779.1:p.Glu132del, NP_114477.1:p.Glu930del, NP_114481.1:p.Glu748del

Select item 147530163510.

rs1475301635 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:141485703 (GRCh38)
5:140865270 (GRCh37)
Canonical SPDI:: NC_000005.10:141485702:A:T
Gene:: PCDHGC3 (Varview), PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGA12 (Varview), PCDHGC4 (Varview), PCDHGB7 (Varview), PCDHGB6 (Varview), PCDHGB5 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA11 (Varview), PCDHGA10 (Varview), PCDHGA9 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141485703A>T, NC_000005.9:g.140865270A>T, NG_000012.2:g.195900A>T, NG_050746.1:g.5530A>T, NM_018928.3:c.530A>T, NM_018928.2:c.530A>T, NM_032406.1:c.530A>T, NP_061751.1:p.His177Leu, NP_115782.1:p.His177Leu

Select item 147373649211.

rs1473736492 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141510965 (GRCh38)
5:140890532 (GRCh37)
Canonical SPDI:: NC_000005.10:141510964:C:T
Gene:: PCDHGC3 (Varview), PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGA12 (Varview), PCDHGC5 (Varview), PCDHGC4 (Varview), PCDHGB7 (Varview), PCDHGB6 (Varview), PCDHGB5 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA11 (Varview), PCDHGA10 (Varview), PCDHGA9 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141510965C>T, NC_000005.9:g.140890532C>T, NG_000012.2:g.221162C>T, NG_050746.1:g.30792C>T, NM_018928.3:c.2609C>T, NM_018928.2:c.2609C>T, NM_001386884.1:c.179C>T, NM_018924.5:c.2582C>T, NM_018924.4:c.2582C>T, NM_018924.3:c.2582C>T, NM_018924.2:c.2582C>T, NM_018915.4:c.2591C>T, NM_018915.3:c.2591C>T, NM_018915.2:c.2591C>T, NM_018916.4:c.2591C>T, NM_018916.3:c.2591C>T, NM_018917.4:c.2681C>T, NM_018917.3:c.2681C>T, NM_018917.2:c.2588C>T, NM_018927.4:c.2582C>T, NM_018927.3:c.2582C>T, NM_003736.4:c.2564C>T, NM_003736.3:c.2564C>T, NM_003736.2:c.2564C>T, NM_018920.4:c.2591C>T, NM_018920.3:c.2591C>T, NM_018920.2:c.2591C>T, NM_002588.4:c.2597C>T, NM_002588.3:c.2597C>T, NM_002588.2:c.2597C>T, NM_003735.3:c.2591C>T, NM_003735.2:c.2591C>T, NM_018913.3:c.2603C>T, NM_018913.2:c.2603C>T, NM_018929.3:c.2627C>T, NM_018929.2:c.2627C>T, NM_018919.3:c.2591C>T, NM_018919.2:c.2591C>T, NM_018914.3:c.2600C>T, NM_018914.2:c.2600C>T, NM_018926.3:c.2585C>T, NM_018926.2:c.2585C>T, NM_018921.3:c.2591C>T, NM_018921.2:c.2591C>T, NM_018912.3:c.2588C>T, NM_018912.2:c.2588C>T, NM_018918.3:c.2588C>T, NM_018918.2:c.2588C>T, NM_018925.3:c.2564C>T, NM_018925.2:c.2564C>T, NM_018922.3:c.2576C>T, NM_018922.2:c.2576C>T, NM_018923.3:c.2588C>T, NM_018923.2:c.2588C>T, NM_032403.3:c.197C>T, NM_032403.2:c.197C>T, NM_032403.1:c.197C>T, NM_032088.2:c.2591C>T, NM_032088.1:c.2591C>T, NM_032092.2:c.2045C>T, NM_032092.1:c.2045C>T, NP_061751.1:p.Ser870Phe, NP_001373813.1:p.Ser60Phe, NP_061747.2:p.Ser861Phe, NP_061738.1:p.Ser864Phe, NP_061739.2:p.Ser864Phe, NP_061740.2:p.Ser894Phe, NP_061750.1:p.Ser861Phe, NP_003727.1:p.Ser855Phe, NP_061743.1:p.Ser864Phe, NP_002579.2:p.Ser866Phe, NP_003726.1:p.Ser864Phe, NP_061736.1:p.Ser868Phe, NP_061752.1:p.Ser876Phe, NP_061742.1:p.Ser864Phe, NP_061737.1:p.Ser867Phe, NP_061749.1:p.Ser862Phe, NP_061744.1:p.Ser864Phe, NP_061735.1:p.Ser863Phe, NP_061741.1:p.Ser863Phe, NP_061748.1:p.Ser855Phe, NP_061745.1:p.Ser859Phe, NP_061746.1:p.Ser863Phe, NP_115779.1:p.Ser66Phe, NP_114477.1:p.Ser864Phe, NP_114481.1:p.Ser682Phe

Select item 147303479412.

rs1473034794 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141487565 (GRCh38)
5:140867132 (GRCh37)
Canonical SPDI:: NC_000005.10:141487564:G:A
Gene:: PCDHGC3 (Varview), PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGA12 (Varview), PCDHGC5 (Varview), PCDHGC4 (Varview), PCDHGB7 (Varview), PCDHGB6 (Varview), PCDHGB5 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA11 (Varview), PCDHGA10 (Varview), PCDHGA9 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141487565G>A, NC_000005.9:g.140867132G>A, NG_000012.2:g.197762G>A, NG_050746.1:g.7392G>A, NM_018928.3:c.2392G>A, NM_018928.2:c.2392G>A, NM_032406.1:c.2392G>A, NP_061751.1:p.Glu798Lys, NP_115782.1:p.Glu798Lys

Select item 147054545113.

rs1470545451 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:141494848 (GRCh38)
5:140874415 (GRCh37)
Canonical SPDI:: NC_000005.10:141494847:G:A,NC_000005.10:141494847:G:C
Gene:: PCDHGC3 (Varview), PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGA12 (Varview), PCDHGC5 (Varview), PCDHGC4 (Varview), PCDHGB7 (Varview), PCDHGB6 (Varview), PCDHGB5 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA11 (Varview), PCDHGA10 (Varview), PCDHGA9 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141494848G>A, NC_000005.10:g.141494848G>C, NC_000005.9:g.140874415G>A, NC_000005.9:g.140874415G>C, NG_000012.2:g.205045G>A, NG_000012.2:g.205045G>C, NG_050746.1:g.14675G>A, NG_050746.1:g.14675G>C, NM_018928.3:c.2484G>A, NM_018928.3:c.2484G>C, NM_018928.2:c.2484G>A, NM_018928.2:c.2484G>C, NM_001386884.1:c.54G>A, NM_001386884.1:c.54G>C, NM_018924.5:c.2457G>A, NM_018924.5:c.2457G>C, NM_018924.4:c.2457G>A, NM_018924.4:c.2457G>C, NM_018924.3:c.2457G>A, NM_018924.3:c.2457G>C, NM_018924.2:c.2457G>A, NM_018924.2:c.2457G>C, NM_018915.4:c.2466G>A, NM_018915.4:c.2466G>C, NM_018915.3:c.2466G>A, NM_018915.3:c.2466G>C, NM_018915.2:c.2466G>A, NM_018915.2:c.2466G>C, NM_018916.4:c.2466G>A, NM_018916.4:c.2466G>C, NM_018916.3:c.2466G>A, NM_018916.3:c.2466G>C, NM_018917.4:c.2556G>A, NM_018917.4:c.2556G>C, NM_018917.3:c.2556G>A, NM_018917.3:c.2556G>C, NM_018917.2:c.2463G>A, NM_018917.2:c.2463G>C, NM_018927.4:c.2457G>A, NM_018927.4:c.2457G>C, NM_018927.3:c.2457G>A, NM_018927.3:c.2457G>C, NM_003736.4:c.2439G>A, NM_003736.4:c.2439G>C, NM_003736.3:c.2439G>A, NM_003736.3:c.2439G>C, NM_003736.2:c.2439G>A, NM_003736.2:c.2439G>C, NM_018920.4:c.2466G>A, NM_018920.4:c.2466G>C, NM_018920.3:c.2466G>A, NM_018920.3:c.2466G>C, NM_018920.2:c.2466G>A, NM_018920.2:c.2466G>C, NM_002588.4:c.2472G>A, NM_002588.4:c.2472G>C, NM_002588.3:c.2472G>A, NM_002588.3:c.2472G>C, NM_002588.2:c.2472G>A, NM_002588.2:c.2472G>C, NM_003735.3:c.2466G>A, NM_003735.3:c.2466G>C, NM_003735.2:c.2466G>A, NM_003735.2:c.2466G>C, NM_018913.3:c.2478G>A, NM_018913.3:c.2478G>C, NM_018913.2:c.2478G>A, NM_018913.2:c.2478G>C, NM_018929.3:c.2502G>A, NM_018929.3:c.2502G>C, NM_018929.2:c.2502G>A, NM_018929.2:c.2502G>C, NM_018919.3:c.2466G>A, NM_018919.3:c.2466G>C, NM_018919.2:c.2466G>A, NM_018919.2:c.2466G>C, NM_018914.3:c.2475G>A, NM_018914.3:c.2475G>C, NM_018914.2:c.2475G>A, NM_018914.2:c.2475G>C, NM_018926.3:c.2460G>A, NM_018926.3:c.2460G>C, NM_018926.2:c.2460G>A, NM_018926.2:c.2460G>C, NM_018921.3:c.2466G>A, NM_018921.3:c.2466G>C, NM_018921.2:c.2466G>A, NM_018921.2:c.2466G>C, NM_018912.3:c.2463G>A, NM_018912.3:c.2463G>C, NM_018912.2:c.2463G>A, NM_018912.2:c.2463G>C, NM_018918.3:c.2463G>A, NM_018918.3:c.2463G>C, NM_018918.2:c.2463G>A, NM_018918.2:c.2463G>C, NM_018925.3:c.2439G>A, NM_018925.3:c.2439G>C, NM_018925.2:c.2439G>A, NM_018925.2:c.2439G>C, NM_018922.3:c.2451G>A, NM_018922.3:c.2451G>C, NM_018922.2:c.2451G>A, NM_018922.2:c.2451G>C, NM_018923.3:c.2463G>A, NM_018923.3:c.2463G>C, NM_018923.2:c.2463G>A, NM_018923.2:c.2463G>C, NM_032403.3:c.72G>A, NM_032403.3:c.72G>C, NM_032403.2:c.72G>A, NM_032403.2:c.72G>C, NM_032403.1:c.72G>A, NM_032403.1:c.72G>C, NM_032088.2:c.2466G>A, NM_032088.2:c.2466G>C, NM_032088.1:c.2466G>A, NM_032088.1:c.2466G>C, NM_032092.2:c.1920G>A, NM_032092.2:c.1920G>C, NM_032092.1:c.1920G>A, NM_032092.1:c.1920G>C, NP_061751.1:p.Gln828His, NP_001373813.1:p.Gln18His, NP_061747.2:p.Gln819His, NP_061738.1:p.Gln822His, NP_061739.2:p.Gln822His, NP_061740.2:p.Gln852His, NP_061750.1:p.Gln819His, NP_003727.1:p.Gln813His, NP_061743.1:p.Gln822His, NP_002579.2:p.Gln824His, NP_003726.1:p.Gln822His, NP_061736.1:p.Gln826His, NP_061752.1:p.Gln834His, NP_061742.1:p.Gln822His, NP_061737.1:p.Gln825His, NP_061749.1:p.Gln820His, NP_061744.1:p.Gln822His, NP_061735.1:p.Gln821His, NP_061741.1:p.Gln821His, NP_061748.1:p.Gln813His, NP_061745.1:p.Gln817His, NP_061746.1:p.Gln821His, NP_115779.1:p.Gln24His, NP_114477.1:p.Gln822His, NP_114481.1:p.Gln640His

Select item 146985708014.

rs1469857080 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141486914 (GRCh38)
5:140866481 (GRCh37)
Canonical SPDI:: NC_000005.10:141486913:C:T
Gene:: PCDHGC3 (Varview), PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGA12 (Varview), PCDHGC4 (Varview), PCDHGB7 (Varview), PCDHGB6 (Varview), PCDHGB5 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA11 (Varview), PCDHGA10 (Varview), PCDHGA9 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.141486914C>T, NC_000005.9:g.140866481C>T, NG_000012.2:g.197111C>T, NG_050746.1:g.6741C>T, NM_018928.3:c.1741C>T, NM_018928.2:c.1741C>T, NM_032406.1:c.1741C>T, NP_061751.1:p.Pro581Ser, NP_115782.1:p.Pro581Ser

Select item 146710439815.

rs1467104398 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:141486218 (GRCh38)
5:140865785 (GRCh37)
Canonical SPDI:: NC_000005.10:141486217:T:A
Gene:: PCDHGC3 (Varview), PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGA12 (Varview), PCDHGC4 (Varview), PCDHGB7 (Varview), PCDHGB6 (Varview), PCDHGB5 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA11 (Varview), PCDHGA10 (Varview), PCDHGA9 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000038/10 (TOPMED)
HGVS:: NC_000005.10:g.141486218T>A, NC_000005.9:g.140865785T>A, NG_000012.2:g.196415T>A, NG_050746.1:g.6045T>A, NM_018928.3:c.1045T>A, NM_018928.2:c.1045T>A, NM_032406.1:c.1045T>A, NP_061751.1:p.Tyr349Asn, NP_115782.1:p.Tyr349Asn

Select item 146695964416.

rs1466959644 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:141485396 (GRCh38)
5:140864963 (GRCh37)
Canonical SPDI:: NC_000005.10:141485395:T:A,NC_000005.10:141485395:T:C
Gene:: PCDHGC3 (Varview), PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGA12 (Varview), PCDHGC4 (Varview), PCDHGB7 (Varview), PCDHGB6 (Varview), PCDHGB5 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA11 (Varview), PCDHGA10 (Varview), PCDHGA9 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141485396T>A, NC_000005.10:g.141485396T>C, NC_000005.9:g.140864963T>A, NC_000005.9:g.140864963T>C, NG_000012.2:g.195593T>A, NG_000012.2:g.195593T>C, NG_050746.1:g.5223T>A, NG_050746.1:g.5223T>C, NM_018928.3:c.223T>A, NM_018928.3:c.223T>C, NM_018928.2:c.223T>A, NM_018928.2:c.223T>C, NM_032406.1:c.223T>A, NM_032406.1:c.223T>C, NP_061751.1:p.Phe75Ile, NP_061751.1:p.Phe75Leu, NP_115782.1:p.Phe75Ile, NP_115782.1:p.Phe75Leu

Select item 146653679117.

rs1466536791 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141487365 (GRCh38)
5:140866932 (GRCh37)
Canonical SPDI:: NC_000005.10:141487364:G:A
Gene:: PCDHGC3 (Varview), PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGA12 (Varview), PCDHGC5 (Varview), PCDHGC4 (Varview), PCDHGB7 (Varview), PCDHGB6 (Varview), PCDHGB5 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA11 (Varview), PCDHGA10 (Varview), PCDHGA9 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141487365G>A, NC_000005.9:g.140866932G>A, NG_000012.2:g.197562G>A, NG_050746.1:g.7192G>A, NM_018928.3:c.2192G>A, NM_018928.2:c.2192G>A, NM_032406.1:c.2192G>A, NP_061751.1:p.Cys731Tyr, NP_115782.1:p.Cys731Tyr

Select item 146616825618.

rs1466168256 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:141510980 (GRCh38)
5:140890547 (GRCh37)
Canonical SPDI:: NC_000005.10:141510979:G:C
Gene:: PCDHGC3 (Varview), PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGA12 (Varview), PCDHGC5 (Varview), PCDHGC4 (Varview), PCDHGB7 (Varview), PCDHGB6 (Varview), PCDHGB5 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA11 (Varview), PCDHGA10 (Varview), PCDHGA9 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141510980G>C, NC_000005.9:g.140890547G>C, NG_000012.2:g.221177G>C, NG_050746.1:g.30807G>C, NM_018928.3:c.2624G>C, NM_018928.2:c.2624G>C, NM_001386884.1:c.194G>C, NM_018924.5:c.2597G>C, NM_018924.4:c.2597G>C, NM_018924.3:c.2597G>C, NM_018924.2:c.2597G>C, NM_018915.4:c.2606G>C, NM_018915.3:c.2606G>C, NM_018915.2:c.2606G>C, NM_018916.4:c.2606G>C, NM_018916.3:c.2606G>C, NM_018917.4:c.2696G>C, NM_018917.3:c.2696G>C, NM_018917.2:c.2603G>C, NM_018927.4:c.2597G>C, NM_018927.3:c.2597G>C, NM_003736.4:c.2579G>C, NM_003736.3:c.2579G>C, NM_003736.2:c.2579G>C, NM_018920.4:c.2606G>C, NM_018920.3:c.2606G>C, NM_018920.2:c.2606G>C, NM_002588.4:c.2612G>C, NM_002588.3:c.2612G>C, NM_002588.2:c.2612G>C, NM_003735.3:c.2606G>C, NM_003735.2:c.2606G>C, NM_018913.3:c.2618G>C, NM_018913.2:c.2618G>C, NM_018929.3:c.2642G>C, NM_018929.2:c.2642G>C, NM_018919.3:c.2606G>C, NM_018919.2:c.2606G>C, NM_018914.3:c.2615G>C, NM_018914.2:c.2615G>C, NM_018926.3:c.2600G>C, NM_018926.2:c.2600G>C, NM_018921.3:c.2606G>C, NM_018921.2:c.2606G>C, NM_018912.3:c.2603G>C, NM_018912.2:c.2603G>C, NM_018918.3:c.2603G>C, NM_018918.2:c.2603G>C, NM_018925.3:c.2579G>C, NM_018925.2:c.2579G>C, NM_018922.3:c.2591G>C, NM_018922.2:c.2591G>C, NM_018923.3:c.2603G>C, NM_018923.2:c.2603G>C, NM_032403.3:c.212G>C, NM_032403.2:c.212G>C, NM_032403.1:c.212G>C, NM_032088.2:c.2606G>C, NM_032088.1:c.2606G>C, NM_032092.2:c.2060G>C, NM_032092.1:c.2060G>C, NP_061751.1:p.Gly875Ala, NP_001373813.1:p.Gly65Ala, NP_061747.2:p.Gly866Ala, NP_061738.1:p.Gly869Ala, NP_061739.2:p.Gly869Ala, NP_061740.2:p.Gly899Ala, NP_061750.1:p.Gly866Ala, NP_003727.1:p.Gly860Ala, NP_061743.1:p.Gly869Ala, NP_002579.2:p.Gly871Ala, NP_003726.1:p.Gly869Ala, NP_061736.1:p.Gly873Ala, NP_061752.1:p.Gly881Ala, NP_061742.1:p.Gly869Ala, NP_061737.1:p.Gly872Ala, NP_061749.1:p.Gly867Ala, NP_061744.1:p.Gly869Ala, NP_061735.1:p.Gly868Ala, NP_061741.1:p.Gly868Ala, NP_061748.1:p.Gly860Ala, NP_061745.1:p.Gly864Ala, NP_061746.1:p.Gly868Ala, NP_115779.1:p.Gly71Ala, NP_114477.1:p.Gly869Ala, NP_114481.1:p.Gly687Ala

Select item 146599436119.

rs1465994361 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141486326 (GRCh38)
5:140865893 (GRCh37)
Canonical SPDI:: NC_000005.10:141486325:G:A
Gene:: PCDHGC3 (Varview), PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGA12 (Varview), PCDHGC4 (Varview), PCDHGB7 (Varview), PCDHGB6 (Varview), PCDHGB5 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA11 (Varview), PCDHGA10 (Varview), PCDHGA9 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141486326G>A, NC_000005.9:g.140865893G>A, NG_000012.2:g.196523G>A, NG_050746.1:g.6153G>A, NM_018928.3:c.1153G>A, NM_018928.2:c.1153G>A, NM_032406.1:c.1153G>A, NP_061751.1:p.Val385Met, NP_115782.1:p.Val385Met

Select item 146552511020.

rs1465525110 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 5:141487033 (GRCh38)
5:140866600 (GRCh37)
Canonical SPDI:: NC_000005.10:141487032:A:C,NC_000005.10:141487032:A:T
Gene:: PCDHGC3 (Varview), PCDHGB4 (Varview), PCDHGA8 (Varview), PCDHGA12 (Varview), PCDHGC4 (Varview), PCDHGB7 (Varview), PCDHGB6 (Varview), PCDHGB5 (Varview), PCDHGB3 (Varview), PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA11 (Varview), PCDHGA10 (Varview), PCDHGA9 (Varview), PCDHGA7 (Varview), PCDHGA6 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_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_000005.10:g.141487033A>C, NC_000005.10:g.141487033A>T, NC_000005.9:g.140866600A>C, NC_000005.9:g.140866600A>T, NG_000012.2:g.197230A>C, NG_000012.2:g.197230A>T, NG_050746.1:g.6860A>C, NG_050746.1:g.6860A>T, NM_018928.3:c.1860A>C, NM_018928.3:c.1860A>T, NM_018928.2:c.1860A>C, NM_018928.2:c.1860A>T, NM_032406.1:c.1860A>C, NM_032406.1:c.1860A>T

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