SNP Links for Protein (Select 730229393) - SNP

Links from Protein

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Select item 14899281071.

rs1489928107 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141137629 (GRCh38)
5:140517211 (GRCh37)
Canonical SPDI:: NC_000005.10:141137628:C:T
Gene:: PCDHB5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141137629C>T, NW_004775428.1:g.372805C>T, NG_000017.2:g.105763C>T, NW_025791778.1:g.372805C>T, NC_000005.9:g.140517211C>T, NM_015669.5:c.2195C>T, NM_015669.4:c.2195C>T, NM_015669.3:c.2195C>T, NM_015669.2:c.2195C>T, NP_056484.2:p.Pro732Leu

Select item 14884541862.

rs1488454186 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 5:141136731 (GRCh38)
5:140516313 (GRCh37)
Canonical SPDI:: NC_000005.10:141136730:G:A,NC_000005.10:141136730:G:C,NC_000005.10:141136730:G:T
Gene:: PCDHB5 (Varview)
Functional Consequence:: stop_gained,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.141136731G>A, NC_000005.10:g.141136731G>C, NC_000005.10:g.141136731G>T, NW_004775428.1:g.371907G>A, NW_004775428.1:g.371907G>C, NW_004775428.1:g.371907G>T, NG_000017.2:g.104865G>A, NG_000017.2:g.104865G>C, NG_000017.2:g.104865G>T, NW_025791778.1:g.371907G>A, NW_025791778.1:g.371907G>C, NW_025791778.1:g.371907G>T, NC_000005.9:g.140516313G>A, NC_000005.9:g.140516313G>C, NC_000005.9:g.140516313G>T, NM_015669.5:c.1297G>A, NM_015669.5:c.1297G>C, NM_015669.5:c.1297G>T, NM_015669.4:c.1297G>A, NM_015669.4:c.1297G>C, NM_015669.4:c.1297G>T, NM_015669.3:c.1297G>A, NM_015669.3:c.1297G>C, NM_015669.3:c.1297G>T, NM_015669.2:c.1297G>A, NM_015669.2:c.1297G>C, NM_015669.2:c.1297G>T, NP_056484.2:p.Glu433Lys, NP_056484.2:p.Glu433Gln, NP_056484.2:p.Glu433Ter

Select item 14881352133.

rs1488135213 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:141136260 (GRCh38)
5:140515842 (GRCh37)
Canonical SPDI:: NC_000005.10:141136259:A:G
Gene:: PCDHB5 (Varview)
Functional Consequence:: missense_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.141136260A>G, NW_004775428.1:g.371436A>G, NG_000017.2:g.104394A>G, NW_025791778.1:g.371436A>G, NC_000005.9:g.140515842A>G, NM_015669.5:c.826A>G, NM_015669.4:c.826A>G, NM_015669.3:c.826A>G, NM_015669.2:c.826A>G, NP_056484.2:p.Ser276Gly

Select item 14879987914.

rs1487998791 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 5:141137298 (GRCh38)
5:140516880 (GRCh37)
Canonical SPDI:: NC_000005.10:141137297:G:A,NC_000005.10:141137297:G:C,NC_000005.10:141137297:G:T
Gene:: PCDHB5 (Varview)
Functional Consequence:: stop_gained,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141137298G>A, NC_000005.10:g.141137298G>C, NC_000005.10:g.141137298G>T, NW_004775428.1:g.372474G>A, NW_004775428.1:g.372474G>C, NW_004775428.1:g.372474G>T, NG_000017.2:g.105432G>A, NG_000017.2:g.105432G>C, NG_000017.2:g.105432G>T, NW_025791778.1:g.372474G>A, NW_025791778.1:g.372474G>C, NW_025791778.1:g.372474G>T, NC_000005.9:g.140516880G>A, NC_000005.9:g.140516880G>C, NC_000005.9:g.140516880G>T, NM_015669.5:c.1864G>A, NM_015669.5:c.1864G>C, NM_015669.5:c.1864G>T, NM_015669.4:c.1864G>A, NM_015669.4:c.1864G>C, NM_015669.4:c.1864G>T, NM_015669.3:c.1864G>A, NM_015669.3:c.1864G>C, NM_015669.3:c.1864G>T, NM_015669.2:c.1864G>A, NM_015669.2:c.1864G>C, NM_015669.2:c.1864G>T, NP_056484.2:p.Glu622Lys, NP_056484.2:p.Glu622Gln, NP_056484.2:p.Glu622Ter

Select item 14836567505.

rs1483656750 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:141137799 (GRCh38)
5:140517381 (GRCh37)
Canonical SPDI:: NC_000005.10:141137798:C:G,NC_000005.10:141137798:C:T
Gene:: PCDHB5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141137799C>G, NC_000005.10:g.141137799C>T, NW_004775428.1:g.372975C>G, NW_004775428.1:g.372975C>T, NG_000017.2:g.105933C>G, NG_000017.2:g.105933C>T, NW_025791778.1:g.372975C>G, NW_025791778.1:g.372975C>T, NC_000005.9:g.140517381C>G, NC_000005.9:g.140517381C>T, NM_015669.5:c.2365C>G, NM_015669.5:c.2365C>T, NM_015669.4:c.2365C>G, NM_015669.4:c.2365C>T, NM_015669.3:c.2365C>G, NM_015669.3:c.2365C>T, NM_015669.2:c.2365C>G, NM_015669.2:c.2365C>T, NP_056484.2:p.Arg789Gly, NP_056484.2:p.Arg789Trp

Select item 14780971416.

rs1478097141 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:141136796 (GRCh38)
5:140516378 (GRCh37)
Canonical SPDI:: NC_000005.10:141136795:C:A,NC_000005.10:141136795:C:T
Gene:: PCDHB5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.141136796C>A, NC_000005.10:g.141136796C>T, NW_004775428.1:g.371972C>A, NW_004775428.1:g.371972C>T, NG_000017.2:g.104930C>A, NG_000017.2:g.104930C>T, NW_025791778.1:g.371972C>A, NW_025791778.1:g.371972C>T, NC_000005.9:g.140516378C>A, NC_000005.9:g.140516378C>T, NM_015669.5:c.1362C>A, NM_015669.5:c.1362C>T, NM_015669.4:c.1362C>A, NM_015669.4:c.1362C>T, NM_015669.3:c.1362C>A, NM_015669.3:c.1362C>T, NM_015669.2:c.1362C>A, NM_015669.2:c.1362C>T

Select item 14777062257.

rs1477706225 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141136777 (GRCh38)
5:140516359 (GRCh37)
Canonical SPDI:: NC_000005.10:141136776:C:T
Gene:: PCDHB5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.141136777C>T, NW_004775428.1:g.371953C>T, NG_000017.2:g.104911C>T, NW_025791778.1:g.371953C>T, NC_000005.9:g.140516359C>T, NM_015669.5:c.1343C>T, NM_015669.4:c.1343C>T, NM_015669.3:c.1343C>T, NM_015669.2:c.1343C>T, NP_056484.2:p.Pro448Leu

Select item 14716606818.

rs1471660681 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:141136031 (GRCh38)
5:140515613 (GRCh37)
Canonical SPDI:: NC_000005.10:141136030:G:A,NC_000005.10:141136030:G:T
Gene:: PCDHB5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.141136031G>A, NC_000005.10:g.141136031G>T, NW_004775428.1:g.371207G>A, NW_004775428.1:g.371207G>T, NG_000017.2:g.104165G>A, NG_000017.2:g.104165G>T, NW_025791778.1:g.371207G>A, NW_025791778.1:g.371207G>T, NC_000005.9:g.140515613G>A, NC_000005.9:g.140515613G>T, NM_015669.5:c.597G>A, NM_015669.5:c.597G>T, NM_015669.4:c.597G>A, NM_015669.4:c.597G>T, NM_015669.3:c.597G>A, NM_015669.3:c.597G>T, NM_015669.2:c.597G>A, NM_015669.2:c.597G>T

Select item 14716296839.

rs1471629683 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:141136898 (GRCh38)
5:140516480 (GRCh37)
Canonical SPDI:: NC_000005.10:141136897:G:C
Gene:: PCDHB5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141136898G>C, NW_004775428.1:g.372074G>C, NG_000017.2:g.105032G>C, NW_025791778.1:g.372074G>C, NC_000005.9:g.140516480G>C, NM_015669.5:c.1464G>C, NM_015669.4:c.1464G>C, NM_015669.3:c.1464G>C, NM_015669.2:c.1464G>C

Select item 146873981710.

rs1468739817 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 5:141137097 (GRCh38)
5:140516679 (GRCh37)
Canonical SPDI:: NC_000005.10:141137096:G:C,NC_000005.10:141137096:G:T
Gene:: PCDHB5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141137097G>C, NC_000005.10:g.141137097G>T, NW_004775428.1:g.372273G>C, NW_004775428.1:g.372273G>T, NG_000017.2:g.105231G>C, NG_000017.2:g.105231G>T, NW_025791778.1:g.372273G>C, NW_025791778.1:g.372273G>T, NC_000005.9:g.140516679G>C, NC_000005.9:g.140516679G>T, NM_015669.5:c.1663G>C, NM_015669.5:c.1663G>T, NM_015669.4:c.1663G>C, NM_015669.4:c.1663G>T, NM_015669.3:c.1663G>C, NM_015669.3:c.1663G>T, NM_015669.2:c.1663G>C, NM_015669.2:c.1663G>T, NP_056484.2:p.Asp555His, NP_056484.2:p.Asp555Tyr

Select item 146554883311.

rs1465548833 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:141137160 (GRCh38)
5:140516742 (GRCh37)
Canonical SPDI:: NC_000005.10:141137159:C:A,NC_000005.10:141137159:C:T
Gene:: PCDHB5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141137160C>A, NC_000005.10:g.141137160C>T, NW_004775428.1:g.372336C>A, NW_004775428.1:g.372336C>T, NG_000017.2:g.105294C>A, NG_000017.2:g.105294C>T, NW_025791778.1:g.372336C>A, NW_025791778.1:g.372336C>T, NC_000005.9:g.140516742C>A, NC_000005.9:g.140516742C>T, NM_015669.5:c.1726C>A, NM_015669.5:c.1726C>T, NM_015669.4:c.1726C>A, NM_015669.4:c.1726C>T, NM_015669.3:c.1726C>A, NM_015669.3:c.1726C>T, NM_015669.2:c.1726C>A, NM_015669.2:c.1726C>T, NP_056484.2:p.Pro576Thr, NP_056484.2:p.Pro576Ser

Select item 146550846412.

rs1465508464 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:141137422 (GRCh38)
5:140517004 (GRCh37)
Canonical SPDI:: NC_000005.10:141137421:A:C
Gene:: PCDHB5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.141137422A>C, NW_004775428.1:g.372598A>C, NG_000017.2:g.105556A>C, NW_025791778.1:g.372598A>C, NC_000005.9:g.140517004A>C, NM_015669.5:c.1988A>C, NM_015669.4:c.1988A>C, NM_015669.3:c.1988A>C, NM_015669.2:c.1988A>C, NP_056484.2:p.Asp663Ala

Select item 146042806913.

rs1460428069 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141135546 (GRCh38)
5:140515128 (GRCh37)
Canonical SPDI:: NC_000005.10:141135545:G:A
Gene:: PCDHB5 (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=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141135546G>A, NW_004775428.1:g.370722G>A, NG_000017.2:g.103680G>A, NW_025791778.1:g.370722G>A, NC_000005.9:g.140515128G>A, NM_015669.5:c.112G>A, NM_015669.4:c.112G>A, NM_015669.3:c.112G>A, NM_015669.2:c.112G>A, NP_056484.2:p.Glu38Lys

Select item 145954030014.

rs1459540300 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:141137488 (GRCh38)
5:140517070 (GRCh37)
Canonical SPDI:: NC_000005.10:141137487:T:C
Gene:: PCDHB5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000005.10:g.141137488T>C, NW_004775428.1:g.372664T>C, NG_000017.2:g.105622T>C, NW_025791778.1:g.372664T>C, NC_000005.9:g.140517070T>C, NM_015669.5:c.2054T>C, NM_015669.4:c.2054T>C, NM_015669.3:c.2054T>C, NM_015669.2:c.2054T>C, NP_056484.2:p.Leu685Pro

Select item 145857949515.

rs1458579495 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:141137497 (GRCh38)
5:140517079 (GRCh37)
Canonical SPDI:: NC_000005.10:141137496:A:G
Gene:: PCDHB5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000005.10:g.141137497A>G, NW_004775428.1:g.372673A>G, NG_000017.2:g.105631A>G, NW_025791778.1:g.372673A>G, NC_000005.9:g.140517079A>G, NM_015669.5:c.2063A>G, NM_015669.4:c.2063A>G, NM_015669.3:c.2063A>G, NM_015669.2:c.2063A>G, NP_056484.2:p.Tyr688Cys

Select item 145645770616.

rs1456457706 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141136638 (GRCh38)
5:140516220 (GRCh37)
Canonical SPDI:: NC_000005.10:141136637:C:T
Gene:: PCDHB5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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.141136638C>T, NW_004775428.1:g.371814C>T, NG_000017.2:g.104772C>T, NW_025791778.1:g.371814C>T, NC_000005.9:g.140516220C>T, NM_015669.5:c.1204C>T, NM_015669.4:c.1204C>T, NM_015669.3:c.1204C>T, NM_015669.2:c.1204C>T

Select item 145562992817.

rs1455629928 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141136690 (GRCh38)
5:140516272 (GRCh37)
Canonical SPDI:: NC_000005.10:141136689:C:T
Gene:: PCDHB5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000108/2 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.141136690C>T, NW_004775428.1:g.371866C>T, NG_000017.2:g.104824C>T, NW_025791778.1:g.371866C>T, NC_000005.9:g.140516272C>T, NM_015669.5:c.1256C>T, NM_015669.4:c.1256C>T, NM_015669.3:c.1256C>T, NM_015669.2:c.1256C>T, NP_056484.2:p.Thr419Ile

Select item 145016977218.

rs1450169772 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:141136985 (GRCh38)
5:140516567 (GRCh37)
Canonical SPDI:: NC_000005.10:141136984:G:A,NC_000005.10:141136984:G:C
Gene:: PCDHB5 (Varview)
Functional Consequence:: 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)
HGVS:: NC_000005.10:g.141136985G>A, NC_000005.10:g.141136985G>C, NW_004775428.1:g.372161G>A, NW_004775428.1:g.372161G>C, NG_000017.2:g.105119G>A, NG_000017.2:g.105119G>C, NW_025791778.1:g.372161G>A, NW_025791778.1:g.372161G>C, NC_000005.9:g.140516567G>A, NC_000005.9:g.140516567G>C, NM_015669.5:c.1551G>A, NM_015669.5:c.1551G>C, NM_015669.4:c.1551G>A, NM_015669.4:c.1551G>C, NM_015669.3:c.1551G>A, NM_015669.3:c.1551G>C, NM_015669.2:c.1551G>A, NM_015669.2:c.1551G>C

Select item 144829234319.

rs1448292343 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:141137152 (GRCh38)
5:140516734 (GRCh37)
Canonical SPDI:: NC_000005.10:141137151:A:T
Gene:: PCDHB5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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.141137152A>T, NW_004775428.1:g.372328A>T, NG_000017.2:g.105286A>T, NW_025791778.1:g.372328A>T, NC_000005.9:g.140516734A>T, NM_015669.5:c.1718A>T, NM_015669.4:c.1718A>T, NM_015669.3:c.1718A>T, NM_015669.2:c.1718A>T, NP_056484.2:p.Glu573Val

Select item 144805371120.

rs1448053711 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:141137752 (GRCh38)
5:140517334 (GRCh37)
Canonical SPDI:: NC_000005.10:141137751:T:G
Gene:: PCDHB5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000084/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141137752T>G, NW_004775428.1:g.372928T>G, NG_000017.2:g.105886T>G, NW_025791778.1:g.372928T>G, NC_000005.9:g.140517334T>G, NM_015669.5:c.2318T>G, NM_015669.4:c.2318T>G, NM_015669.3:c.2318T>G, NM_015669.2:c.2318T>G, NP_056484.2:p.Leu773Arg

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