SNP Links for Protein (Select 9256602) - SNP

Links from Protein

Items: 1 to 20 of 926

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Select item 14889885171.

rs1488988517 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:141193407 (GRCh38)
5:140572980 (GRCh37)
Canonical SPDI:: NC_000005.10:141193406:A:T
Gene:: PCDHB10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000122/2 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000005.10:g.141193407A>T, NW_004775428.1:g.428583A>T, NG_000017.2:g.161533A>T, NW_025791778.1:g.428583A>T, NC_000005.9:g.140572980A>T, NM_018930.4:c.855A>T, NM_018930.3:c.855A>T

Select item 14885797122.

rs1488579712 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141193907 (GRCh38)
5:140573480 (GRCh37)
Canonical SPDI:: NC_000005.10:141193906:C:T
Gene:: PCDHB10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141193907C>T, NW_004775428.1:g.429083C>T, NG_000017.2:g.162033C>T, NW_025791778.1:g.429083C>T, NC_000005.9:g.140573480C>T, NM_018930.4:c.1355C>T, NM_018930.3:c.1355C>T, NP_061753.1:p.Thr452Ile

Select item 14876004133.

rs1487600413 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141193642 (GRCh38)
5:140573215 (GRCh37)
Canonical SPDI:: NC_000005.10:141193641:C:T
Gene:: PCDHB10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141193642C>T, NW_004775428.1:g.428818C>T, NG_000017.2:g.161768C>T, NW_025791778.1:g.428818C>T, NC_000005.9:g.140573215C>T, NM_018930.4:c.1090C>T, NM_018930.3:c.1090C>T, NP_061753.1:p.Pro364Ser

Select item 14875508194.

rs1487550819 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141192783 (GRCh38)
5:140572356 (GRCh37)
Canonical SPDI:: NC_000005.10:141192782:G:A
Gene:: PCDHB10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.141192783G>A, NW_004775428.1:g.427959G>A, NG_000017.2:g.160909G>A, NW_025791778.1:g.427959G>A, NC_000005.9:g.140572356G>A, NM_018930.4:c.231G>A, NM_018930.3:c.231G>A

Select item 14865919695.

rs1486591969 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:141194142 (GRCh38)
5:140573715 (GRCh37)
Canonical SPDI:: NC_000005.10:141194141:C:G,NC_000005.10:141194141:C:T
Gene:: PCDHB10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000036/5 (GnomAD)
HGVS:: NC_000005.10:g.141194142C>G, NC_000005.10:g.141194142C>T, NW_004775428.1:g.429318C>G, NW_004775428.1:g.429318C>T, NG_000017.2:g.162268C>G, NG_000017.2:g.162268C>T, NW_025791778.1:g.429318C>G, NW_025791778.1:g.429318C>T, NC_000005.9:g.140573715C>G, NC_000005.9:g.140573715C>T, NM_018930.4:c.1590C>G, NM_018930.4:c.1590C>T, NM_018930.3:c.1590C>G, NM_018930.3:c.1590C>T

Select item 14828774996.

rs1482877499 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141194733 (GRCh38)
5:140574306 (GRCh37)
Canonical SPDI:: NC_000005.10:141194732:C:T
Gene:: PCDHB10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.141194733C>T, NW_004775428.1:g.429909C>T, NG_000017.2:g.162859C>T, NW_025791778.1:g.429909C>T, NC_000005.9:g.140574306C>T, NM_018930.4:c.2181C>T, NM_018930.3:c.2181C>T

Select item 14817994827.

rs1481799482 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 5:141194033 (GRCh38)
5:140573606 (GRCh37)
Canonical SPDI:: NC_000005.10:141194032:A:C,NC_000005.10:141194032:A:G
Gene:: PCDHB10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.141194033A>C, NC_000005.10:g.141194033A>G, NW_004775428.1:g.429209A>C, NW_004775428.1:g.429209A>G, NG_000017.2:g.162159A>C, NG_000017.2:g.162159A>G, NW_025791778.1:g.429209A>C, NW_025791778.1:g.429209A>G, NC_000005.9:g.140573606A>C, NC_000005.9:g.140573606A>G, NM_018930.4:c.1481A>C, NM_018930.4:c.1481A>G, NM_018930.3:c.1481A>C, NM_018930.3:c.1481A>G, NP_061753.1:p.Gln494Pro, NP_061753.1:p.Gln494Arg

Select item 14802942468.

rs1480294246 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:141193626 (GRCh38)
5:140573199 (GRCh37)
Canonical SPDI:: NC_000005.10:141193625:G:A,NC_000005.10:141193625:G:T
Gene:: PCDHB10 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.141193626G>A, NC_000005.10:g.141193626G>T, NW_004775428.1:g.428802G>A, NW_004775428.1:g.428802G>T, NG_000017.2:g.161752G>A, NG_000017.2:g.161752G>T, NW_025791778.1:g.428802G>A, NW_025791778.1:g.428802G>T, NC_000005.9:g.140573199G>A, NC_000005.9:g.140573199G>T, NM_018930.4:c.1074G>A, NM_018930.4:c.1074G>T, NM_018930.3:c.1074G>A, NM_018930.3:c.1074G>T, NP_061753.1:p.Glu358Asp

Select item 14780087469.

rs1478008746 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141193242 (GRCh38)
5:140572815 (GRCh37)
Canonical SPDI:: NC_000005.10:141193241:C:T
Gene:: PCDHB10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000032/8 (GnomAD_exomes)
T=0.000156/1 (1000Genomes)
T=0.000248/4 (TOMMO)
T=0.001092/2 (Korea1K)
HGVS:: NC_000005.10:g.141193242C>T, NW_004775428.1:g.428418C>T, NG_000017.2:g.161368C>T, NW_025791778.1:g.428418C>T, NC_000005.9:g.140572815C>T, NM_018930.4:c.690C>T, NM_018930.3:c.690C>T

Select item 147703293610.

rs1477032936 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:141192872 (GRCh38)
5:140572445 (GRCh37)
Canonical SPDI:: NC_000005.10:141192871:A:T
Gene:: PCDHB10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000026/7 (TOPMED)
HGVS:: NC_000005.10:g.141192872A>T, NW_004775428.1:g.428048A>T, NG_000017.2:g.160998A>T, NW_025791778.1:g.428048A>T, NC_000005.9:g.140572445A>T, NM_018930.4:c.320A>T, NM_018930.3:c.320A>T, NP_061753.1:p.Gln107Leu

Select item 147231325811.

rs1472313258 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:141194834 (GRCh38)
5:140574407 (GRCh37)
Canonical SPDI:: NC_000005.10:141194833:C:G
Gene:: PCDHB10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000087/2 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.141194834C>G, NW_004775428.1:g.430010C>G, NG_000017.2:g.162960C>G, NW_025791778.1:g.430010C>G, NC_000005.9:g.140574407C>G, NM_018930.4:c.2282C>G, NM_018930.3:c.2282C>G, NP_061753.1:p.Pro761Arg

Select item 147086729312.

rs1470867293 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141194405 (GRCh38)
5:140573978 (GRCh37)
Canonical SPDI:: NC_000005.10:141194404:G:A
Gene:: PCDHB10 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141194405G>A, NW_004775428.1:g.429581G>A, NG_000017.2:g.162531G>A, NW_025791778.1:g.429581G>A, NC_000005.9:g.140573978G>A, NM_018930.4:c.1853G>A, NM_018930.3:c.1853G>A, NP_061753.1:p.Trp618Ter

Select item 146950096713.

rs1469500967 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141193700 (GRCh38)
5:140573273 (GRCh37)
Canonical SPDI:: NC_000005.10:141193699:G:A
Gene:: PCDHB10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.141193700G>A, NW_004775428.1:g.428876G>A, NG_000017.2:g.161826G>A, NW_025791778.1:g.428876G>A, NC_000005.9:g.140573273G>A, NM_018930.4:c.1148G>A, NM_018930.3:c.1148G>A, NP_061753.1:p.Cys383Tyr

Select item 146908849514.

rs1469088495 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:141192563 (GRCh38)
5:140572136 (GRCh37)
Canonical SPDI:: NC_000005.10:141192562:G:C
Gene:: PCDHB10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141192563G>C, NW_004775428.1:g.427739G>C, NG_000017.2:g.160689G>C, NW_025791778.1:g.427739G>C, NC_000005.9:g.140572136G>C, NM_018930.4:c.11G>C, NM_018930.3:c.11G>C, NP_061753.1:p.Arg4Thr

Select item 146584164315.

rs1465841643 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:141193304 (GRCh38)
5:140572877 (GRCh37)
Canonical SPDI:: NC_000005.10:141193303:C:G,NC_000005.10:141193303:C:T
Gene:: PCDHB10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000546/1 (Korea1K)
HGVS:: NC_000005.10:g.141193304C>G, NC_000005.10:g.141193304C>T, NW_004775428.1:g.428480C>G, NW_004775428.1:g.428480C>T, NG_000017.2:g.161430C>G, NG_000017.2:g.161430C>T, NW_025791778.1:g.428480C>G, NW_025791778.1:g.428480C>T, NC_000005.9:g.140572877C>G, NC_000005.9:g.140572877C>T, NM_018930.4:c.752C>G, NM_018930.4:c.752C>T, NM_018930.3:c.752C>G, NM_018930.3:c.752C>T, NP_061753.1:p.Ala251Gly, NP_061753.1:p.Ala251Val

Select item 146303557416.

rs1463035574 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141194770 (GRCh38)
5:140574343 (GRCh37)
Canonical SPDI:: NC_000005.10:141194769:G:A
Gene:: PCDHB10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000169/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.141194770G>A, NW_004775428.1:g.429946G>A, NG_000017.2:g.162896G>A, NW_025791778.1:g.429946G>A, NC_000005.9:g.140574343G>A, NM_018930.4:c.2218G>A, NM_018930.3:c.2218G>A, NP_061753.1:p.Asp740Asn

Select item 146127386117.

rs1461273861 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141193376 (GRCh38)
5:140572949 (GRCh37)
Canonical SPDI:: NC_000005.10:141193375:C:T
Gene:: PCDHB10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141193376C>T, NW_004775428.1:g.428552C>T, NG_000017.2:g.161502C>T, NW_025791778.1:g.428552C>T, NC_000005.9:g.140572949C>T, NM_018930.4:c.824C>T, NM_018930.3:c.824C>T, NP_061753.1:p.Ala275Val

Select item 146093103318.

rs1460931033 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:141194209 (GRCh38)
5:140573782 (GRCh37)
Canonical SPDI:: NC_000005.10:141194208:G:A,NC_000005.10:141194208:G:C
Gene:: PCDHB10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141194209G>A, NC_000005.10:g.141194209G>C, NW_004775428.1:g.429385G>A, NW_004775428.1:g.429385G>C, NG_000017.2:g.162335G>A, NG_000017.2:g.162335G>C, NW_025791778.1:g.429385G>A, NW_025791778.1:g.429385G>C, NC_000005.9:g.140573782G>A, NC_000005.9:g.140573782G>C, NM_018930.4:c.1657G>A, NM_018930.4:c.1657G>C, NM_018930.3:c.1657G>A, NM_018930.3:c.1657G>C, NP_061753.1:p.Asp553Asn, NP_061753.1:p.Asp553His

Select item 146066626419.

rs1460666264 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:141194223 (GRCh38)
5:140573796 (GRCh37)
Canonical SPDI:: NC_000005.10:141194222:C:G,NC_000005.10:141194222:C:T
Gene:: PCDHB10 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141194223C>G, NC_000005.10:g.141194223C>T, NW_004775428.1:g.429399C>G, NW_004775428.1:g.429399C>T, NG_000017.2:g.162349C>G, NG_000017.2:g.162349C>T, NW_025791778.1:g.429399C>G, NW_025791778.1:g.429399C>T, NC_000005.9:g.140573796C>G, NC_000005.9:g.140573796C>T, NM_018930.4:c.1671C>G, NM_018930.4:c.1671C>T, NM_018930.3:c.1671C>G, NM_018930.3:c.1671C>T, NP_061753.1:p.Asn557Lys

Select item 145626773020.

rs1456267730 [Homo sapiens]

Variant type:: DEL
Alleles:: TCTCA>- [Show Flanks]
Chromosome:: 5:141193458 (GRCh38)
5:140573031 (GRCh37)
Canonical SPDI:: NC_000005.10:141193457:TCTCA:
Gene:: PCDHB10 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141193458_141193462del, NW_004775428.1:g.428634_428638del, NG_000017.2:g.161584_161588del, NW_025791778.1:g.428634_428638del, NC_000005.9:g.140573031_140573035del, NM_018930.4:c.906_910del, NM_018930.3:c.906_910del, NP_061753.1:p.Phe302fs

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