SNP Links for Protein (Select 14165402) - SNP

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Links from Protein

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Select item 14903067051.

rs1490306705 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:140978949 (GRCh38)
5:140358534 (GRCh37)
Canonical SPDI:: NC_000005.10:140978948:C:T
Gene:: PCDHA9 (Varview), PCDHAC2 (Varview), PCDHAC1 (Varview), PCDHA13 (Varview), PCDHA12 (Varview), PCDHA11 (Varview), PCDHA10 (Varview), PCDHA8 (Varview), PCDHA7 (Varview), PCDHA6 (Varview), PCDHA5 (Varview), PCDHA4 (Varview), PCDHA3 (Varview), PCDHA2 (Varview), PCDHA1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.140978949C>T, NW_004775428.1:g.214125C>T, NG_000016.2:g.244823C>T, NW_025791778.1:g.214125C>T, NC_000005.9:g.140358534C>T, NG_050677.1:g.189091C>T, NM_018905.3:c.2389C>T, NM_018905.2:c.2389C>T, NG_050675.1:g.182752C>T, NM_018906.3:c.2395C>T, NM_018906.2:c.2395C>T, NG_050674.1:g.128067C>T, NM_018901.4:c.2389C>T, NM_018901.3:c.2389C>T, NM_018901.2:c.2389C>T, NM_031860.3:c.1600C>T, NM_031860.2:c.1600C>T, NM_031860.1:c.1600C>T, NG_050672.1:g.57233C>T, NM_018898.5:c.2434C>T, NM_018898.4:c.2434C>T, NM_018898.3:c.2434C>T, NM_018899.6:c.2566C>T, NM_018899.5:c.2566C>T, NM_018902.5:c.2392C>T, NM_018902.4:c.2392C>T, NM_018902.3:c.2392C>T, NM_018900.4:c.2395C>T, NM_018900.3:c.2395C>T, NM_018900.2:c.2395C>T, NM_018903.4:c.2368C>T, NM_018903.3:c.2368C>T, NM_018903.2:c.2368C>T, NM_018909.4:c.2395C>T, NM_018909.3:c.2395C>T, NM_018909.2:c.2395C>T, NM_018907.4:c.2386C>T, NM_018907.3:c.2386C>T, NM_018907.2:c.2386C>T, NM_018904.3:c.2395C>T, NM_018904.2:c.2395C>T, NM_018911.3:c.2395C>T, NM_018911.2:c.2395C>T, NM_018908.3:c.2353C>T, NM_018908.2:c.2353C>T, NM_018910.3:c.2356C>T, NM_018910.2:c.2356C>T, NM_031411.3:c.1603C>T, NM_031411.2:c.1603C>T, NM_031411.1:c.1603C>T, NM_031849.3:c.1603C>T, NM_031849.2:c.1603C>T, NM_031849.1:c.1603C>T, NM_031857.2:c.2395C>T, NM_031857.1:c.2395C>T, NP_061728.1:p.Pro797Ser, NP_061729.1:p.Pro799Ser, NP_061724.1:p.Pro797Ser, NP_114066.1:p.Pro534Ser, NP_061721.2:p.Pro812Ser, NP_061722.1:p.Pro856Ser, NP_061725.1:p.Pro798Ser, NP_061723.1:p.Pro799Ser, NP_061726.1:p.Pro790Ser, NP_061732.1:p.Pro799Ser, NP_061730.1:p.Pro796Ser, NP_061727.1:p.Pro799Ser, NP_061734.1:p.Pro799Ser, NP_061731.1:p.Pro785Ser, NP_061733.1:p.Pro786Ser, NP_113599.1:p.Pro535Ser, NP_114037.1:p.Pro535Ser, NP_114063.1:p.Pro799Ser

Select item 14867469212.

rs1486746921 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141009728 (GRCh38)
5:140389313 (GRCh37)
Canonical SPDI:: NC_000005.10:141009727:G:A
Gene:: PCDHA9 (Varview), PCDHAC2 (Varview), PCDHAC1 (Varview), PCDHA13 (Varview), PCDHA12 (Varview), PCDHA11 (Varview), PCDHA10 (Varview), PCDHA8 (Varview), PCDHA7 (Varview), PCDHA6 (Varview), PCDHA5 (Varview), PCDHA4 (Varview), PCDHA3 (Varview), PCDHA2 (Varview), PCDHA1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000071/1 (TOMMO)
A=0.001667/1 (NorthernSweden)
HGVS:: NC_000005.10:g.141009728G>A, NW_004775428.1:g.244904G>A, NG_000016.2:g.275602G>A, NW_025791778.1:g.244904G>A, NC_000005.9:g.140389313G>A, NG_050677.1:g.219870G>A, NM_018905.3:c.2638G>A, NM_018905.2:c.2638G>A, NG_050675.1:g.213531G>A, NM_018906.3:c.2644G>A, NM_018906.2:c.2644G>A, NG_050674.1:g.158846G>A, NM_018901.4:c.2638G>A, NM_018901.3:c.2638G>A, NM_018901.2:c.2638G>A, NM_031860.3:c.1849G>A, NM_031860.2:c.1849G>A, NM_031860.1:c.1849G>A, NG_050672.1:g.88012G>A, NM_018898.5:c.2683G>A, NM_018898.4:c.2683G>A, NM_018898.3:c.2683G>A, NM_018899.6:c.2815G>A, NM_018899.5:c.2815G>A, NM_018902.5:c.2641G>A, NM_018902.4:c.2641G>A, NM_018902.3:c.2641G>A, NM_018900.4:c.2644G>A, NM_018900.3:c.2644G>A, NM_018900.2:c.2644G>A, NM_018903.4:c.2617G>A, NM_018903.3:c.2617G>A, NM_018903.2:c.2617G>A, NM_018909.4:c.2644G>A, NM_018909.3:c.2644G>A, NM_018909.2:c.2644G>A, NM_018907.4:c.2635G>A, NM_018907.3:c.2635G>A, NM_018907.2:c.2635G>A, NM_018904.3:c.2644G>A, NM_018904.2:c.2644G>A, NM_018911.3:c.2644G>A, NM_018911.2:c.2644G>A, NM_018908.3:c.2602G>A, NM_018908.2:c.2602G>A, NM_018910.3:c.2605G>A, NM_018910.2:c.2605G>A, NM_031411.3:c.1852G>A, NM_031411.2:c.1852G>A, NM_031411.1:c.1852G>A, NM_031849.3:c.1852G>A, NM_031849.2:c.1852G>A, NM_031849.1:c.1852G>A, NM_031857.2:c.2644G>A, NM_031857.1:c.2644G>A, NP_061728.1:p.Gly880Ser, NP_061729.1:p.Gly882Ser, NP_061724.1:p.Gly880Ser, NP_114066.1:p.Gly617Ser, NP_061721.2:p.Gly895Ser, NP_061722.1:p.Gly939Ser, NP_061725.1:p.Gly881Ser, NP_061723.1:p.Gly882Ser, NP_061726.1:p.Gly873Ser, NP_061732.1:p.Gly882Ser, NP_061730.1:p.Gly879Ser, NP_061727.1:p.Gly882Ser, NP_061734.1:p.Gly882Ser, NP_061731.1:p.Gly868Ser, NP_061733.1:p.Gly869Ser, NP_113599.1:p.Gly618Ser, NP_114037.1:p.Gly618Ser, NP_114063.1:p.Gly882Ser

Select item 14857475673.

rs1485747567 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:140787686 (GRCh38)
5:140167271 (GRCh37)
Canonical SPDI:: NC_000005.10:140787685:G:A
Gene:: PCDHA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.140787686G>A, NC_000005.9:g.140167271G>A, NG_000016.2:g.53559G>A, NW_025791778.1:g.22862G>A, NW_004775428.1:g.22862G>A, NM_018900.4:c.1396G>A, NM_018900.3:c.1396G>A, NM_018900.2:c.1396G>A, NM_031411.3:c.1396G>A, NM_031411.2:c.1396G>A, NM_031411.1:c.1396G>A, NM_031410.2:c.1396G>A, NM_031410.1:c.1396G>A, NP_061723.1:p.Glu466Lys, NP_113599.1:p.Glu466Lys, NP_113598.1:p.Glu466Lys

Select item 14827126764.

rs1482712676 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:140786389 (GRCh38)
5:140165974 (GRCh37)
Canonical SPDI:: NC_000005.10:140786388:C:G,NC_000005.10:140786388:C:T
Gene:: PCDHA1 (Varview)
Functional Consequence:: stop_gained,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.140786389C>G, NC_000005.10:g.140786389C>T, NC_000005.9:g.140165974C>G, NC_000005.9:g.140165974C>T, NG_000016.2:g.52262C>G, NG_000016.2:g.52262C>T, NW_025791778.1:g.21565C>G, NW_025791778.1:g.21565C>T, NW_004775428.1:g.21565C>G, NW_004775428.1:g.21565C>T, NM_018900.4:c.99C>G, NM_018900.4:c.99C>T, NM_018900.3:c.99C>G, NM_018900.3:c.99C>T, NM_018900.2:c.99C>G, NM_018900.2:c.99C>T, NM_031411.3:c.99C>G, NM_031411.3:c.99C>T, NM_031411.2:c.99C>G, NM_031411.2:c.99C>T, NM_031411.1:c.99C>G, NM_031411.1:c.99C>T, NM_031410.2:c.99C>G, NM_031410.2:c.99C>T, NM_031410.1:c.99C>G, NM_031410.1:c.99C>T, NP_061723.1:p.Tyr33Ter, NP_113599.1:p.Tyr33Ter, NP_113598.1:p.Tyr33Ter

Select item 14826826265.

rs1482682626 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141009853 (GRCh38)
5:140389438 (GRCh37)
Canonical SPDI:: NC_000005.10:141009852:G:A
Gene:: PCDHA9 (Varview), PCDHAC2 (Varview), PCDHAC1 (Varview), PCDHA13 (Varview), PCDHA12 (Varview), PCDHA11 (Varview), PCDHA10 (Varview), PCDHA8 (Varview), PCDHA7 (Varview), PCDHA6 (Varview), PCDHA5 (Varview), PCDHA4 (Varview), PCDHA3 (Varview), PCDHA2 (Varview), PCDHA1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141009853G>A, NW_004775428.1:g.245029G>A, NG_000016.2:g.275727G>A, NW_025791778.1:g.245029G>A, NC_000005.9:g.140389438G>A, NG_050677.1:g.219995G>A, NM_018905.3:c.2763G>A, NM_018905.2:c.2763G>A, NG_050675.1:g.213656G>A, NM_018906.3:c.2769G>A, NM_018906.2:c.2769G>A, NG_050674.1:g.158971G>A, NM_018901.4:c.2763G>A, NM_018901.3:c.2763G>A, NM_018901.2:c.2763G>A, NM_031860.3:c.1974G>A, NM_031860.2:c.1974G>A, NM_031860.1:c.1974G>A, NG_050672.1:g.88137G>A, NM_018898.5:c.2808G>A, NM_018898.4:c.2808G>A, NM_018898.3:c.2808G>A, NM_018899.6:c.2940G>A, NM_018899.5:c.2940G>A, NM_018902.5:c.2766G>A, NM_018902.4:c.2766G>A, NM_018902.3:c.2766G>A, NM_018900.4:c.2769G>A, NM_018900.3:c.2769G>A, NM_018900.2:c.2769G>A, NM_018903.4:c.2742G>A, NM_018903.3:c.2742G>A, NM_018903.2:c.2742G>A, NM_018909.4:c.2769G>A, NM_018909.3:c.2769G>A, NM_018909.2:c.2769G>A, NM_018907.4:c.2760G>A, NM_018907.3:c.2760G>A, NM_018907.2:c.2760G>A, NM_018904.3:c.2769G>A, NM_018904.2:c.2769G>A, NM_018911.3:c.2769G>A, NM_018911.2:c.2769G>A, NM_018908.3:c.2727G>A, NM_018908.2:c.2727G>A, NM_018910.3:c.2730G>A, NM_018910.2:c.2730G>A, NM_031411.3:c.1977G>A, NM_031411.2:c.1977G>A, NM_031411.1:c.1977G>A, NM_031849.3:c.1977G>A, NM_031849.2:c.1977G>A, NM_031849.1:c.1977G>A, NM_031857.2:c.2769G>A, NM_031857.1:c.2769G>A

Select item 14756254986.

rs1475625498 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:140786825 (GRCh38)
5:140166410 (GRCh37)
Canonical SPDI:: NC_000005.10:140786824:T:C
Gene:: PCDHA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.140786825T>C, NC_000005.9:g.140166410T>C, NG_000016.2:g.52698T>C, NW_025791778.1:g.22001T>C, NW_004775428.1:g.22001T>C, NM_018900.4:c.535T>C, NM_018900.3:c.535T>C, NM_018900.2:c.535T>C, NM_031411.3:c.535T>C, NM_031411.2:c.535T>C, NM_031411.1:c.535T>C, NM_031410.2:c.535T>C, NM_031410.1:c.535T>C, NP_061723.1:p.Ser179Pro, NP_113599.1:p.Ser179Pro, NP_113598.1:p.Ser179Pro

Select item 14755627457.

rs1475562745 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 5:140787229 (GRCh38)
5:140166814 (GRCh37)
Canonical SPDI:: NC_000005.10:140787228:AAAA:AAA,NC_000005.10:140787228:AAAA:AAAAA
Gene:: PCDHA1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.140787232del, NC_000005.10:g.140787232dup, NC_000005.9:g.140166817del, NC_000005.9:g.140166817dup, NG_000016.2:g.53105del, NG_000016.2:g.53105dup, NW_025791778.1:g.22408del, NW_025791778.1:g.22408dup, NW_004775428.1:g.22408del, NW_004775428.1:g.22408dup, NM_018900.4:c.942del, NM_018900.4:c.942dup, NM_018900.3:c.942del, NM_018900.3:c.942dup, NM_018900.2:c.942del, NM_018900.2:c.942dup, NM_031411.3:c.942del, NM_031411.3:c.942dup, NM_031411.2:c.942del, NM_031411.2:c.942dup, NM_031411.1:c.942del, NM_031411.1:c.942dup, NM_031410.2:c.942del, NM_031410.2:c.942dup, NM_031410.1:c.942del, NM_031410.1:c.942dup, NP_061723.1:p.Lys314fs, NP_061723.1:p.Ser315fs, NP_113599.1:p.Lys314fs, NP_113599.1:p.Ser315fs, NP_113598.1:p.Lys314fs, NP_113598.1:p.Ser315fs

Select item 14741006548.

rs1474100654 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:140787493 (GRCh38)
5:140167078 (GRCh37)
Canonical SPDI:: NC_000005.10:140787492:C:T
Gene:: PCDHA1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.140787493C>T, NC_000005.9:g.140167078C>T, NG_000016.2:g.53366C>T, NW_025791778.1:g.22669C>T, NW_004775428.1:g.22669C>T, NM_018900.4:c.1203C>T, NM_018900.3:c.1203C>T, NM_018900.2:c.1203C>T, NM_031411.3:c.1203C>T, NM_031411.2:c.1203C>T, NM_031411.1:c.1203C>T, NM_031410.2:c.1203C>T, NM_031410.1:c.1203C>T

Select item 14735456309.

rs1473545630 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAT [Show Flanks]
Chromosome:: 5:140787363 (GRCh38)
5:140166949 (GRCh37)
Canonical SPDI:: NC_000005.10:140787363:TAT:TATTAT
Gene:: PCDHA1 (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATTAT=0.000071/1 (ALFA)
TAT=0.000014/2 (GnomAD)
TAT=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.140787364_140787366dup, NC_000005.9:g.140166949_140166951dup, NG_000016.2:g.53237_53239dup, NW_025791778.1:g.22540_22542dup, NW_004775428.1:g.22540_22542dup, NM_018900.4:c.1074_1076dup, NM_018900.3:c.1074_1076dup, NM_018900.2:c.1074_1076dup, NM_031411.3:c.1074_1076dup, NM_031411.2:c.1074_1076dup, NM_031411.1:c.1074_1076dup, NM_031410.2:c.1074_1076dup, NM_031410.1:c.1074_1076dup, NP_061723.1:p.Ile359dup, NP_113599.1:p.Ile359dup, NP_113598.1:p.Ile359dup

Select item 146908917610.

rs1469089176 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:140787050 (GRCh38)
5:140166635 (GRCh37)
Canonical SPDI:: NC_000005.10:140787049:A:G
Gene:: PCDHA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000005.10:g.140787050A>G, NC_000005.9:g.140166635A>G, NG_000016.2:g.52923A>G, NW_025791778.1:g.22226A>G, NW_004775428.1:g.22226A>G, NM_018900.4:c.760A>G, NM_018900.3:c.760A>G, NM_018900.2:c.760A>G, NM_031411.3:c.760A>G, NM_031411.2:c.760A>G, NM_031411.1:c.760A>G, NM_031410.2:c.760A>G, NM_031410.1:c.760A>G, NP_061723.1:p.Thr254Ala, NP_113599.1:p.Thr254Ala, NP_113598.1:p.Thr254Ala

Select item 146819944311.

rs1468199443 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:140982500 (GRCh38)
5:140362085 (GRCh37)
Canonical SPDI:: NC_000005.10:140982499:A:G
Gene:: PCDHA9 (Varview), PCDHAC2 (Varview), PCDHAC1 (Varview), PCDHA13 (Varview), PCDHA12 (Varview), PCDHA11 (Varview), PCDHA10 (Varview), PCDHA8 (Varview), PCDHA7 (Varview), PCDHA6 (Varview), PCDHA5 (Varview), PCDHA4 (Varview), PCDHA3 (Varview), PCDHA2 (Varview), PCDHA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000546/1 (Korea1K)
HGVS:: NC_000005.10:g.140982500A>G, NW_004775428.1:g.217676A>G, NG_000016.2:g.248374A>G, NW_025791778.1:g.217676A>G, NC_000005.9:g.140362085A>G, NG_050677.1:g.192642A>G, NM_018905.3:c.2473A>G, NM_018905.2:c.2473A>G, NG_050675.1:g.186303A>G, NM_018906.3:c.2479A>G, NM_018906.2:c.2479A>G, NG_050674.1:g.131618A>G, NM_018901.4:c.2473A>G, NM_018901.3:c.2473A>G, NM_018901.2:c.2473A>G, NM_031860.3:c.1684A>G, NM_031860.2:c.1684A>G, NM_031860.1:c.1684A>G, NG_050672.1:g.60784A>G, NM_018898.5:c.2518A>G, NM_018898.4:c.2518A>G, NM_018898.3:c.2518A>G, NM_018899.6:c.2650A>G, NM_018899.5:c.2650A>G, NM_018902.5:c.2476A>G, NM_018902.4:c.2476A>G, NM_018902.3:c.2476A>G, NM_018900.4:c.2479A>G, NM_018900.3:c.2479A>G, NM_018900.2:c.2479A>G, NM_018903.4:c.2452A>G, NM_018903.3:c.2452A>G, NM_018903.2:c.2452A>G, NM_018909.4:c.2479A>G, NM_018909.3:c.2479A>G, NM_018909.2:c.2479A>G, NM_018907.4:c.2470A>G, NM_018907.3:c.2470A>G, NM_018907.2:c.2470A>G, NM_018904.3:c.2479A>G, NM_018904.2:c.2479A>G, NM_018911.3:c.2479A>G, NM_018911.2:c.2479A>G, NM_018908.3:c.2437A>G, NM_018908.2:c.2437A>G, NM_018910.3:c.2440A>G, NM_018910.2:c.2440A>G, NM_031411.3:c.1687A>G, NM_031411.2:c.1687A>G, NM_031411.1:c.1687A>G, NM_031849.3:c.1687A>G, NM_031849.2:c.1687A>G, NM_031849.1:c.1687A>G, NM_031857.2:c.2479A>G, NM_031857.1:c.2479A>G, NP_061728.1:p.Ile825Val, NP_061729.1:p.Ile827Val, NP_061724.1:p.Ile825Val, NP_114066.1:p.Ile562Val, NP_061721.2:p.Ile840Val, NP_061722.1:p.Ile884Val, NP_061725.1:p.Ile826Val, NP_061723.1:p.Ile827Val, NP_061726.1:p.Ile818Val, NP_061732.1:p.Ile827Val, NP_061730.1:p.Ile824Val, NP_061727.1:p.Ile827Val, NP_061734.1:p.Ile827Val, NP_061731.1:p.Ile813Val, NP_061733.1:p.Ile814Val, NP_113599.1:p.Ile563Val, NP_114037.1:p.Ile563Val, NP_114063.1:p.Ile827Val

Select item 146763588912.

rs1467635889 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:140787079 (GRCh38)
5:140166664 (GRCh37)
Canonical SPDI:: NC_000005.10:140787078:A:C
Gene:: PCDHA1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.140787079A>C, NC_000005.9:g.140166664A>C, NG_000016.2:g.52952A>C, NW_025791778.1:g.22255A>C, NW_004775428.1:g.22255A>C, NM_018900.4:c.789A>C, NM_018900.3:c.789A>C, NM_018900.2:c.789A>C, NM_031411.3:c.789A>C, NM_031411.2:c.789A>C, NM_031411.1:c.789A>C, NM_031410.2:c.789A>C, NM_031410.1:c.789A>C

Select item 146372505813.

rs1463725058 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:141009923 (GRCh38)
5:140389508 (GRCh37)
Canonical SPDI:: NC_000005.10:141009922:A:T
Gene:: PCDHA9 (Varview), PCDHAC2 (Varview), PCDHAC1 (Varview), PCDHA13 (Varview), PCDHA12 (Varview), PCDHA11 (Varview), PCDHA10 (Varview), PCDHA8 (Varview), PCDHA7 (Varview), PCDHA6 (Varview), PCDHA5 (Varview), PCDHA4 (Varview), PCDHA3 (Varview), PCDHA2 (Varview), PCDHA1 (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=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141009923A>T, NW_004775428.1:g.245099A>T, NG_000016.2:g.275797A>T, NW_025791778.1:g.245099A>T, NC_000005.9:g.140389508A>T, NG_050677.1:g.220065A>T, NM_018905.3:c.2833A>T, NM_018905.2:c.2833A>T, NG_050675.1:g.213726A>T, NM_018906.3:c.2839A>T, NM_018906.2:c.2839A>T, NG_050674.1:g.159041A>T, NM_018901.4:c.2833A>T, NM_018901.3:c.2833A>T, NM_018901.2:c.2833A>T, NM_031860.3:c.2044A>T, NM_031860.2:c.2044A>T, NM_031860.1:c.2044A>T, NG_050672.1:g.88207A>T, NM_018898.5:c.2878A>T, NM_018898.4:c.2878A>T, NM_018898.3:c.2878A>T, NM_018899.6:c.3010A>T, NM_018899.5:c.3010A>T, NM_018902.5:c.2836A>T, NM_018902.4:c.2836A>T, NM_018902.3:c.2836A>T, NM_018900.4:c.2839A>T, NM_018900.3:c.2839A>T, NM_018900.2:c.2839A>T, NM_018903.4:c.2812A>T, NM_018903.3:c.2812A>T, NM_018903.2:c.2812A>T, NM_018909.4:c.2839A>T, NM_018909.3:c.2839A>T, NM_018909.2:c.2839A>T, NM_018907.4:c.2830A>T, NM_018907.3:c.2830A>T, NM_018907.2:c.2830A>T, NM_018904.3:c.2839A>T, NM_018904.2:c.2839A>T, NM_018911.3:c.2839A>T, NM_018911.2:c.2839A>T, NM_018908.3:c.2797A>T, NM_018908.2:c.2797A>T, NM_018910.3:c.2800A>T, NM_018910.2:c.2800A>T, NM_031411.3:c.2047A>T, NM_031411.2:c.2047A>T, NM_031411.1:c.2047A>T, NM_031849.3:c.2047A>T, NM_031849.2:c.2047A>T, NM_031849.1:c.2047A>T, NM_031857.2:c.2839A>T, NM_031857.1:c.2839A>T, NP_061728.1:p.Asn945Tyr, NP_061729.1:p.Asn947Tyr, NP_061724.1:p.Asn945Tyr, NP_114066.1:p.Asn682Tyr, NP_061721.2:p.Asn960Tyr, NP_061722.1:p.Asn1004Tyr, NP_061725.1:p.Asn946Tyr, NP_061723.1:p.Asn947Tyr, NP_061726.1:p.Asn938Tyr, NP_061732.1:p.Asn947Tyr, NP_061730.1:p.Asn944Tyr, NP_061727.1:p.Asn947Tyr, NP_061734.1:p.Asn947Tyr, NP_061731.1:p.Asn933Tyr, NP_061733.1:p.Asn934Tyr, NP_113599.1:p.Asn683Tyr, NP_114037.1:p.Asn683Tyr, NP_114063.1:p.Asn947Tyr

Select item 146272343114.

rs1462723431 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:140787462 (GRCh38)
5:140167047 (GRCh37)
Canonical SPDI:: NC_000005.10:140787461:C:A,NC_000005.10:140787461:C:T
Gene:: PCDHA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
T=0.00006/1 (TOMMO)
HGVS:: NC_000005.10:g.140787462C>A, NC_000005.10:g.140787462C>T, NC_000005.9:g.140167047C>A, NC_000005.9:g.140167047C>T, NG_000016.2:g.53335C>A, NG_000016.2:g.53335C>T, NW_025791778.1:g.22638C>A, NW_025791778.1:g.22638C>T, NW_004775428.1:g.22638C>A, NW_004775428.1:g.22638C>T, NM_018900.4:c.1172C>A, NM_018900.4:c.1172C>T, NM_018900.3:c.1172C>A, NM_018900.3:c.1172C>T, NM_018900.2:c.1172C>A, NM_018900.2:c.1172C>T, NM_031411.3:c.1172C>A, NM_031411.3:c.1172C>T, NM_031411.2:c.1172C>A, NM_031411.2:c.1172C>T, NM_031411.1:c.1172C>A, NM_031411.1:c.1172C>T, NM_031410.2:c.1172C>A, NM_031410.2:c.1172C>T, NM_031410.1:c.1172C>A, NM_031410.1:c.1172C>T, NP_061723.1:p.Pro391His, NP_061723.1:p.Pro391Leu, NP_113599.1:p.Pro391His, NP_113599.1:p.Pro391Leu, NP_113598.1:p.Pro391His, NP_113598.1:p.Pro391Leu

Select item 146219714615.

rs1462197146 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:140786909 (GRCh38)
5:140166494 (GRCh37)
Canonical SPDI:: NC_000005.10:140786908:G:A
Gene:: PCDHA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.140786909G>A, NC_000005.9:g.140166494G>A, NG_000016.2:g.52782G>A, NW_025791778.1:g.22085G>A, NW_004775428.1:g.22085G>A, NM_018900.4:c.619G>A, NM_018900.3:c.619G>A, NM_018900.2:c.619G>A, NM_031411.3:c.619G>A, NM_031411.2:c.619G>A, NM_031411.1:c.619G>A, NM_031410.2:c.619G>A, NM_031410.1:c.619G>A, NP_061723.1:p.Glu207Lys, NP_113599.1:p.Glu207Lys, NP_113598.1:p.Glu207Lys

Select item 146170821016.

rs1461708210 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:140787798 (GRCh38)
5:140167383 (GRCh37)
Canonical SPDI:: NC_000005.10:140787797:C:T
Gene:: PCDHA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.140787798C>T, NC_000005.9:g.140167383C>T, NG_000016.2:g.53671C>T, NW_025791778.1:g.22974C>T, NW_004775428.1:g.22974C>T, NM_018900.4:c.1508C>T, NM_018900.3:c.1508C>T, NM_018900.2:c.1508C>T, NM_031411.3:c.1508C>T, NM_031411.2:c.1508C>T, NM_031411.1:c.1508C>T, NM_031410.2:c.1508C>T, NM_031410.1:c.1508C>T, NP_061723.1:p.Ala503Val, NP_113599.1:p.Ala503Val, NP_113598.1:p.Ala503Val

Select item 145983760317.

rs1459837603 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:140786431 (GRCh38)
5:140166016 (GRCh37)
Canonical SPDI:: NC_000005.10:140786430:C:G
Gene:: PCDHA1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000005.10:g.140786431C>G, NC_000005.9:g.140166016C>G, NG_000016.2:g.52304C>G, NW_025791778.1:g.21607C>G, NW_004775428.1:g.21607C>G, NM_018900.4:c.141C>G, NM_018900.3:c.141C>G, NM_018900.2:c.141C>G, NM_031411.3:c.141C>G, NM_031411.2:c.141C>G, NM_031411.1:c.141C>G, NM_031410.2:c.141C>G, NM_031410.1:c.141C>G

Select item 145896170518.

rs1458961705 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:140787037 (GRCh38)
5:140166622 (GRCh37)
Canonical SPDI:: NC_000005.10:140787036:C:G
Gene:: PCDHA1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000005.10:g.140787037C>G, NC_000005.9:g.140166622C>G, NG_000016.2:g.52910C>G, NW_025791778.1:g.22213C>G, NW_004775428.1:g.22213C>G, NM_018900.4:c.747C>G, NM_018900.3:c.747C>G, NM_018900.2:c.747C>G, NM_031411.3:c.747C>G, NM_031411.2:c.747C>G, NM_031411.1:c.747C>G, NM_031410.2:c.747C>G, NM_031410.1:c.747C>G

Select item 145417695319.

rs1454176953 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:140787203 (GRCh38)
5:140166788 (GRCh37)
Canonical SPDI:: NC_000005.10:140787202:A:G
Gene:: PCDHA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.140787203A>G, NC_000005.9:g.140166788A>G, NG_000016.2:g.53076A>G, NW_025791778.1:g.22379A>G, NW_004775428.1:g.22379A>G, NM_018900.4:c.913A>G, NM_018900.3:c.913A>G, NM_018900.2:c.913A>G, NM_031411.3:c.913A>G, NM_031411.2:c.913A>G, NM_031411.1:c.913A>G, NM_031410.2:c.913A>G, NM_031410.1:c.913A>G, NP_061723.1:p.Ile305Val, NP_113599.1:p.Ile305Val, NP_113598.1:p.Ile305Val

Select item 145118640620.

rs1451186406 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:140786718 (GRCh38)
5:140166303 (GRCh37)
Canonical SPDI:: NC_000005.10:140786717:C:T
Gene:: PCDHA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.001062/18 (TOMMO)
HGVS:: NC_000005.10:g.140786718C>T, NC_000005.9:g.140166303C>T, NG_000016.2:g.52591C>T, NW_025791778.1:g.21894C>T, NW_004775428.1:g.21894C>T, NM_018900.4:c.428C>T, NM_018900.3:c.428C>T, NM_018900.2:c.428C>T, NM_031411.3:c.428C>T, NM_031411.2:c.428C>T, NM_031411.1:c.428C>T, NM_031410.2:c.428C>T, NM_031410.1:c.428C>T, NP_061723.1:p.Pro143Leu, NP_113599.1:p.Pro143Leu, NP_113598.1:p.Pro143Leu

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