SNP Links for Protein (Select 9256610) - SNP

Links from Protein

Items: 1 to 20 of 779

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Select item 14903917421.

rs1490391742 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 5:141247366 (GRCh38)
5:140626934 (GRCh37)
Canonical SPDI:: NC_000005.10:141247365:GGG:GG
Gene:: PCDHB15 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141247368del, NW_004775428.1:g.482544del, NG_000017.2:g.215489del, NW_025791778.1:g.482544del, NC_000005.9:g.140626936del, NM_018935.4:c.1790del, NM_018935.3:c.1790del, NM_018935.2:c.1790del, NP_061758.1:p.Gly597fs

Select item 14903663762.

rs1490366376 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:141246714 (GRCh38)
5:140626283 (GRCh37)
Canonical SPDI:: NC_000005.10:141246714:AAAAA:AAAAAA
Gene:: PCDHB15 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.141246719dup, NW_004775428.1:g.481895dup, NG_000017.2:g.214840dup, NW_025791778.1:g.481895dup, NC_000005.9:g.140626287dup, NM_018935.4:c.1141dup, NM_018935.3:c.1141dup, NM_018935.2:c.1141dup, NP_061758.1:p.Met381fs

Select item 14900459113.

rs1490045911 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141245703 (GRCh38)
5:140625271 (GRCh37)
Canonical SPDI:: NC_000005.10:141245702:G:A
Gene:: PCDHB15 (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=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.141245703G>A, NW_004775428.1:g.480879G>A, NG_000017.2:g.213824G>A, NW_025791778.1:g.480879G>A, NC_000005.9:g.140625271G>A, NM_018935.4:c.125G>A, NM_018935.3:c.125G>A, NM_018935.2:c.125G>A, NP_061758.1:p.Gly42Asp

Select item 14847204514.

rs1484720451 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:141245799 (GRCh38)
5:140625367 (GRCh37)
Canonical SPDI:: NC_000005.10:141245798:G:T
Gene:: PCDHB15 (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=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.141245799G>T, NW_004775428.1:g.480975G>T, NG_000017.2:g.213920G>T, NW_025791778.1:g.480975G>T, NC_000005.9:g.140625367G>T, NM_018935.4:c.221G>T, NM_018935.3:c.221G>T, NM_018935.2:c.221G>T, NP_061758.1:p.Gly74Val

Select item 14840886645.

rs1484088664 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141245915 (GRCh38)
5:140625483 (GRCh37)
Canonical SPDI:: NC_000005.10:141245914:C:T
Gene:: PCDHB15 (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.141245915C>T, NW_004775428.1:g.481091C>T, NG_000017.2:g.214036C>T, NW_025791778.1:g.481091C>T, NC_000005.9:g.140625483C>T, NM_018935.4:c.337C>T, NM_018935.3:c.337C>T, NM_018935.2:c.337C>T, NP_061758.1:p.Pro113Ser

Select item 14804702016.

rs1480470201 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 5:141247427 (GRCh38)
5:140626995 (GRCh37)
Canonical SPDI:: NC_000005.10:141247426:G:C,NC_000005.10:141247426:G:T
Gene:: PCDHB15 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.141247427G>C, NC_000005.10:g.141247427G>T, NW_004775428.1:g.482603G>C, NW_004775428.1:g.482603G>T, NG_000017.2:g.215548G>C, NG_000017.2:g.215548G>T, NW_025791778.1:g.482603G>C, NW_025791778.1:g.482603G>T, NC_000005.9:g.140626995G>C, NC_000005.9:g.140626995G>T, NM_018935.4:c.1849G>C, NM_018935.4:c.1849G>T, NM_018935.3:c.1849G>C, NM_018935.3:c.1849G>T, NM_018935.2:c.1849G>C, NM_018935.2:c.1849G>T, NP_061758.1:p.Val617Leu, NP_061758.1:p.Val617Leu

Select item 14797987477.

rs1479798747 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAACGAACAAGG>- [Show Flanks]
Chromosome:: 5:141245787 (GRCh38)
5:140625355 (GRCh37)
Canonical SPDI:: NC_000005.10:141245783:AGGATAACGAACAAGG:AGG
Gene:: PCDHB15 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: AGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141245787_141245799del, NW_004775428.1:g.480963_480975del, NG_000017.2:g.213908_213920del, NW_025791778.1:g.480963_480975del, NC_000005.9:g.140625355_140625367del, NM_018935.4:c.209_221del, NM_018935.3:c.209_221del, NM_018935.2:c.209_221del, NP_061758.1:p.Asp70fs

Select item 14771274158.

rs1477127415 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141247769 (GRCh38)
5:140627337 (GRCh37)
Canonical SPDI:: NC_000005.10:141247768:C:T
Gene:: PCDHB15 (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)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141247769C>T, NW_004775428.1:g.482945C>T, NG_000017.2:g.215890C>T, NW_025791778.1:g.482945C>T, NC_000005.9:g.140627337C>T, NM_018935.4:c.2191C>T, NM_018935.3:c.2191C>T, NM_018935.2:c.2191C>T, NP_061758.1:p.Pro731Ser

Select item 14764295129.

rs1476429512 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141246378 (GRCh38)
5:140625946 (GRCh37)
Canonical SPDI:: NC_000005.10:141246377:G:A
Gene:: PCDHB15 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.141246378G>A, NW_004775428.1:g.481554G>A, NG_000017.2:g.214499G>A, NW_025791778.1:g.481554G>A, NC_000005.9:g.140625946G>A, NM_018935.4:c.800G>A, NM_018935.3:c.800G>A, NM_018935.2:c.800G>A, NP_061758.1:p.Arg267Lys

Select item 147232684110.

rs1472326841 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141247092 (GRCh38)
5:140626660 (GRCh37)
Canonical SPDI:: NC_000005.10:141247091:C:T
Gene:: PCDHB15 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000005.10:g.141247092C>T, NW_004775428.1:g.482268C>T, NG_000017.2:g.215213C>T, NW_025791778.1:g.482268C>T, NC_000005.9:g.140626660C>T, NM_018935.4:c.1514C>T, NM_018935.3:c.1514C>T, NM_018935.2:c.1514C>T, NP_061758.1:p.Ser505Phe

Select item 147089663811.

rs1470896638 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141247343 (GRCh38)
5:140626911 (GRCh37)
Canonical SPDI:: NC_000005.10:141247342:G:A
Gene:: PCDHB15 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.141247343G>A, NW_004775428.1:g.482519G>A, NG_000017.2:g.215464G>A, NW_025791778.1:g.482519G>A, NC_000005.9:g.140626911G>A, NM_018935.4:c.1765G>A, NM_018935.3:c.1765G>A, NM_018935.2:c.1765G>A, NP_061758.1:p.Val589Met

Select item 146990580412.

rs1469905804 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141247477 (GRCh38)
5:140627045 (GRCh37)
Canonical SPDI:: NC_000005.10:141247476:C:T
Gene:: PCDHB15 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141247477C>T, NW_004775428.1:g.482653C>T, NG_000017.2:g.215598C>T, NW_025791778.1:g.482653C>T, NC_000005.9:g.140627045C>T, NM_018935.4:c.1899C>T, NM_018935.3:c.1899C>T, NM_018935.2:c.1899C>T

Select item 146812423113.

rs1468124231 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:141246365 (GRCh38)
5:140625933 (GRCh37)
Canonical SPDI:: NC_000005.10:141246364:A:T
Gene:: PCDHB15 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.141246365A>T, NW_004775428.1:g.481541A>T, NG_000017.2:g.214486A>T, NW_025791778.1:g.481541A>T, NC_000005.9:g.140625933A>T, NM_018935.4:c.787A>T, NM_018935.3:c.787A>T, NM_018935.2:c.787A>T, NP_061758.1:p.Lys263Ter

Select item 146664433414.

rs1466644334 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:141245865 (GRCh38)
5:140625433 (GRCh37)
Canonical SPDI:: NC_000005.10:141245864:G:T
Gene:: PCDHB15 (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.141245865G>T, NW_004775428.1:g.481041G>T, NG_000017.2:g.213986G>T, NW_025791778.1:g.481041G>T, NC_000005.9:g.140625433G>T, NM_018935.4:c.287G>T, NM_018935.3:c.287G>T, NM_018935.2:c.287G>T, NP_061758.1:p.Cys96Phe

Select item 146514621815.

rs1465146218 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:141246948 (GRCh38)
5:140626516 (GRCh37)
Canonical SPDI:: NC_000005.10:141246947:C:A
Gene:: PCDHB15 (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.141246948C>A, NW_004775428.1:g.482124C>A, NG_000017.2:g.215069C>A, NW_025791778.1:g.482124C>A, NC_000005.9:g.140626516C>A, NM_018935.4:c.1370C>A, NM_018935.3:c.1370C>A, NM_018935.2:c.1370C>A, NP_061758.1:p.Thr457Asn

Select item 146509861516.

rs1465098615 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141247559 (GRCh38)
5:140627127 (GRCh37)
Canonical SPDI:: NC_000005.10:141247558:C:T
Gene:: PCDHB15 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141247559C>T, NW_004775428.1:g.482735C>T, NG_000017.2:g.215680C>T, NW_025791778.1:g.482735C>T, NC_000005.9:g.140627127C>T, NM_018935.4:c.1981C>T, NM_018935.3:c.1981C>T, NM_018935.2:c.1981C>T, NP_061758.1:p.Leu661Phe

Select item 146354169717.

rs1463541697 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:141247439 (GRCh38)
5:140627007 (GRCh37)
Canonical SPDI:: NC_000005.10:141247438:A:G
Gene:: PCDHB15 (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.141247439A>G, NW_004775428.1:g.482615A>G, NG_000017.2:g.215560A>G, NW_025791778.1:g.482615A>G, NC_000005.9:g.140627007A>G, NM_018935.4:c.1861A>G, NM_018935.3:c.1861A>G, NM_018935.2:c.1861A>G, NP_061758.1:p.Asn621Asp

Select item 145804207618.

rs1458042076 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:141246047 (GRCh38)
5:140625615 (GRCh37)
Canonical SPDI:: NC_000005.10:141246046:G:A,NC_000005.10:141246046:G:T
Gene:: PCDHB15 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000085/3 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000038/10 (TOPMED)
HGVS:: NC_000005.10:g.141246047G>A, NC_000005.10:g.141246047G>T, NW_004775428.1:g.481223G>A, NW_004775428.1:g.481223G>T, NG_000017.2:g.214168G>A, NG_000017.2:g.214168G>T, NW_025791778.1:g.481223G>A, NW_025791778.1:g.481223G>T, NC_000005.9:g.140625615G>A, NC_000005.9:g.140625615G>T, NM_018935.4:c.469G>A, NM_018935.4:c.469G>T, NM_018935.3:c.469G>A, NM_018935.3:c.469G>T, NM_018935.2:c.469G>A, NM_018935.2:c.469G>T, NP_061758.1:p.Ala157Thr, NP_061758.1:p.Ala157Ser

Select item 145680911219.

rs1456809112 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:141247766 (GRCh38)
5:140627334 (GRCh37)
Canonical SPDI:: NC_000005.10:141247765:G:T
Gene:: PCDHB15 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000012/3 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000005.10:g.141247766G>T, NW_004775428.1:g.482942G>T, NG_000017.2:g.215887G>T, NW_025791778.1:g.482942G>T, NC_000005.9:g.140627334G>T, NM_018935.4:c.2188G>T, NM_018935.3:c.2188G>T, NM_018935.2:c.2188G>T, NP_061758.1:p.Gly730Cys

Select item 145658922320.

rs1456589223 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:141247155 (GRCh38)
5:140626723 (GRCh37)
Canonical SPDI:: NC_000005.10:141247154:C:A
Gene:: PCDHB15 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000023/6 (TOPMED)
HGVS:: NC_000005.10:g.141247155C>A, NW_004775428.1:g.482331C>A, NG_000017.2:g.215276C>A, NW_025791778.1:g.482331C>A, NC_000005.9:g.140626723C>A, NM_018935.4:c.1577C>A, NM_018935.3:c.1577C>A, NM_018935.2:c.1577C>A, NP_061758.1:p.Ala526Asp

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