SNP Links for Protein (Select 11128035) - SNP

Links from Protein

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Select item 14898524591.

rs1489852459 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:141360228 (GRCh38)
5:140739795 (GRCh37)
Canonical SPDI:: NC_000005.10:141360227:C:A
Gene:: PCDHGB2 (Varview), PCDHGB1 (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:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.141360228C>A, NC_000005.9:g.140739795C>A, NG_000012.2:g.70425C>A, NM_018923.3:c.93C>A, NM_018923.2:c.93C>A, NM_032096.1:c.93C>A

Select item 14878459602.

rs1487845960 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141362405 (GRCh38)
5:140741972 (GRCh37)
Canonical SPDI:: NC_000005.10:141362404:C:T
Gene:: PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141362405C>T, NC_000005.9:g.140741972C>T, NG_000012.2:g.72602C>T, NM_018923.3:c.2270C>T, NM_018923.2:c.2270C>T, NM_032096.1:c.2270C>T, NP_061746.1:p.Ala757Val, NP_115267.1:p.Ala757Val

Select item 14863822773.

rs1486382277 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:141361302 (GRCh38)
5:140740869 (GRCh37)
Canonical SPDI:: NC_000005.10:141361301:T:C
Gene:: PCDHGB2 (Varview), PCDHGB1 (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
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141361302T>C, NC_000005.9:g.140740869T>C, NG_000012.2:g.71499T>C, NM_018923.3:c.1167T>C, NM_018923.2:c.1167T>C, NM_032096.1:c.1167T>C

Select item 14860536054.

rs1486053605 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141360990 (GRCh38)
5:140740557 (GRCh37)
Canonical SPDI:: NC_000005.10:141360989:C:T
Gene:: PCDHGB2 (Varview), PCDHGB1 (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./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141360990C>T, NC_000005.9:g.140740557C>T, NG_000012.2:g.71187C>T, NM_018923.3:c.855C>T, NM_018923.2:c.855C>T, NM_032096.1:c.855C>T

Select item 14859524785.

rs1485952478 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:141361612 (GRCh38)
5:140741179 (GRCh37)
Canonical SPDI:: NC_000005.10:141361611:G:A,NC_000005.10:141361611:G:T
Gene:: PCDHGB2 (Varview), PCDHGB1 (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 (TOPMED)
T=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141361612G>A, NC_000005.10:g.141361612G>T, NC_000005.9:g.140741179G>A, NC_000005.9:g.140741179G>T, NG_000012.2:g.71809G>A, NG_000012.2:g.71809G>T, NM_018923.3:c.1477G>A, NM_018923.3:c.1477G>T, NM_018923.2:c.1477G>A, NM_018923.2:c.1477G>T, NM_032096.1:c.1477G>A, NM_032096.1:c.1477G>T, NP_061746.1:p.Ala493Thr, NP_061746.1:p.Ala493Ser, NP_115267.1:p.Ala493Thr, NP_115267.1:p.Ala493Ser

Select item 14848176826.

rs1484817682 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:141360390 (GRCh38)
5:140739957 (GRCh37)
Canonical SPDI:: NC_000005.10:141360389:T:C
Gene:: PCDHGB2 (Varview), PCDHGB1 (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
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141360390T>C, NC_000005.9:g.140739957T>C, NG_000012.2:g.70587T>C, NM_018923.3:c.255T>C, NM_018923.2:c.255T>C, NM_032096.1:c.255T>C

Select item 14843224487.

rs1484322448 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:141362459 (GRCh38)
5:140742026 (GRCh37)
Canonical SPDI:: NC_000005.10:141362458:T:C
Gene:: PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA5 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141362459T>C, NC_000005.9:g.140742026T>C, NG_000012.2:g.72656T>C, NM_018923.3:c.2324T>C, NM_018923.2:c.2324T>C, NM_032096.1:c.2324T>C, NP_061746.1:p.Val775Ala, NP_115267.1:p.Val775Ala

Select item 14829731998.

rs1482973199 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 5:141361430 (GRCh38)
5:140740997 (GRCh37)
Canonical SPDI:: NC_000005.10:141361429:T:
Gene:: PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.141361430del, NC_000005.9:g.140740997del, NG_000012.2:g.71627del, NM_018923.3:c.1295del, NM_018923.2:c.1295del, NM_032096.1:c.1295del, NP_061746.1:p.Leu432fs, NP_115267.1:p.Leu432fs

Select item 14814773849.

rs1481477384 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:141360758 (GRCh38)
5:140740325 (GRCh37)
Canonical SPDI:: NC_000005.10:141360757:A:G
Gene:: PCDHGB2 (Varview), PCDHGB1 (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 alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.141360758A>G, NC_000005.9:g.140740325A>G, NG_000012.2:g.70955A>G, NM_018923.3:c.623A>G, NM_018923.2:c.623A>G, NM_032096.1:c.623A>G, NP_061746.1:p.His208Arg, NP_115267.1:p.His208Arg

Select item 148046967510.

rs1480469675 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:141360259 (GRCh38)
5:140739826 (GRCh37)
Canonical SPDI:: NC_000005.10:141360258:G:T
Gene:: PCDHGB2 (Varview), PCDHGB1 (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.141360259G>T, NC_000005.9:g.140739826G>T, NG_000012.2:g.70456G>T, NM_018923.3:c.124G>T, NM_018923.2:c.124G>T, NM_032096.1:c.124G>T, NP_061746.1:p.Ala42Ser, NP_115267.1:p.Ala42Ser

Select item 148014836711.

rs1480148367 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 5:141361472 (GRCh38)
5:140741039 (GRCh37)
Canonical SPDI:: NC_000005.10:141361471:A:G,NC_000005.10:141361471:A:T
Gene:: PCDHGB2 (Varview), PCDHGB1 (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 alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.141361472A>G, NC_000005.10:g.141361472A>T, NC_000005.9:g.140741039A>G, NC_000005.9:g.140741039A>T, NG_000012.2:g.71669A>G, NG_000012.2:g.71669A>T, NM_018923.3:c.1337A>G, NM_018923.3:c.1337A>T, NM_018923.2:c.1337A>G, NM_018923.2:c.1337A>T, NM_032096.1:c.1337A>G, NM_032096.1:c.1337A>T, NP_061746.1:p.Asn446Ser, NP_061746.1:p.Asn446Ile, NP_115267.1:p.Asn446Ser, NP_115267.1:p.Asn446Ile

Select item 147969866812.

rs1479698668 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:141360561 (GRCh38)
5:140740128 (GRCh37)
Canonical SPDI:: NC_000005.10:141360560:T:C
Gene:: PCDHGB2 (Varview), PCDHGB1 (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,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000005.10:g.141360561T>C, NC_000005.9:g.140740128T>C, NG_000012.2:g.70758T>C, NM_018923.3:c.426T>C, NM_018923.2:c.426T>C, NM_032096.1:c.426T>C

Select item 147717398713.

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 147589470414.

rs1475894704 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:141361322 (GRCh38)
5:140740889 (GRCh37)
Canonical SPDI:: NC_000005.10:141361321:C:A
Gene:: PCDHGB2 (Varview), PCDHGB1 (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:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141361322C>A, NC_000005.9:g.140740889C>A, NG_000012.2:g.71519C>A, NM_018923.3:c.1187C>A, NM_018923.2:c.1187C>A, NM_032096.1:c.1187C>A, NP_061746.1:p.Ser396Tyr, NP_115267.1:p.Ser396Tyr

Select item 147551815415.

rs1475518154 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 5:141360924 (GRCh38)
5:140740491 (GRCh37)
Canonical SPDI:: NC_000005.10:141360923:A:G,NC_000005.10:141360923:A:T
Gene:: PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141360924A>G, NC_000005.10:g.141360924A>T, NC_000005.9:g.140740491A>G, NC_000005.9:g.140740491A>T, NG_000012.2:g.71121A>G, NG_000012.2:g.71121A>T, NM_018923.3:c.789A>G, NM_018923.3:c.789A>T, NM_018923.2:c.789A>G, NM_018923.2:c.789A>T, NM_032096.1:c.789A>G, NM_032096.1:c.789A>T, NP_061746.1:p.Gln263His, NP_115267.1:p.Gln263His

Select item 147518864916.

rs1475188649 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 5:141360585 (GRCh38)
5:140740152 (GRCh37)
Canonical SPDI:: NC_000005.10:141360584:AA:A
Gene:: PCDHGB2 (Varview), PCDHGB1 (Varview), PCDHGA4 (Varview), PCDHGA3 (Varview), PCDHGA2 (Varview), PCDHGA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.141360586del, NC_000005.9:g.140740153del, NG_000012.2:g.70783del, NM_018923.3:c.451del, NM_018923.2:c.451del, NM_032096.1:c.451del, NP_061746.1:p.Thr151fs, NP_115267.1:p.Thr151fs

Select item 147373649217.

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 147351063918.

rs1473510639 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141360528 (GRCh38)
5:140740095 (GRCh37)
Canonical SPDI:: NC_000005.10:141360527:G:A
Gene:: PCDHGB2 (Varview), PCDHGB1 (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:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141360528G>A, NC_000005.9:g.140740095G>A, NG_000012.2:g.70725G>A, NM_018923.3:c.393G>A, NM_018923.2:c.393G>A, NM_032096.1:c.393G>A

Select item 147285027819.

rs1472850278 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:141361875 (GRCh38)
5:140741442 (GRCh37)
Canonical SPDI:: NC_000005.10:141361874:C:G,NC_000005.10:141361874:C:T
Gene:: PCDHGB2 (Varview), PCDHGB1 (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,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.141361875C>G, NC_000005.10:g.141361875C>T, NC_000005.9:g.140741442C>G, NC_000005.9:g.140741442C>T, NG_000012.2:g.72072C>G, NG_000012.2:g.72072C>T, NM_018923.3:c.1740C>G, NM_018923.3:c.1740C>T, NM_018923.2:c.1740C>G, NM_018923.2:c.1740C>T, NM_032096.1:c.1740C>G, NM_032096.1:c.1740C>T

Select item 147197343420.

rs1471973434 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141360216 (GRCh38)
5:140739783 (GRCh37)
Canonical SPDI:: NC_000005.10:141360215:G:A
Gene:: PCDHGB2 (Varview), PCDHGB1 (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,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141360216G>A, NC_000005.9:g.140739783G>A, NG_000012.2:g.70413G>A, NM_018923.3:c.81G>A, NM_018923.2:c.81G>A, NM_032096.1:c.81G>A

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