SNP Links for Gene (Select 56121) - SNP

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Items: 1 to 20 of 1420

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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 14897516554.

rs1489751655 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAGAGATA [Show Flanks]
Chromosome:: 5:141244790 (GRCh38)
5:140624359 (GRCh37)
Canonical SPDI:: NC_000005.10:141244790:AAGAGATA:AAGAGATAAAGAGATA
Gene:: PCDHB15 (Varview), PCDHB19P (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAGAGATAAAGAGATA=0./0 (ALFA)
AAGAGATA=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141244791_141244798dup, NW_004775428.1:g.479967_479974dup, NG_000017.2:g.212912_212919dup, NW_025791778.1:g.479967_479974dup, NC_000005.9:g.140624359_140624366dup

Select item 14893144015.

rs1489314401 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141245331 (GRCh38)
5:140624899 (GRCh37)
Canonical SPDI:: NC_000005.10:141245330:G:A
Gene:: PCDHB15 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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.141245331G>A, NW_004775428.1:g.480507G>A, NG_000017.2:g.213452G>A, NW_025791778.1:g.480507G>A, NC_000005.9:g.140624899G>A

Select item 14892545446.

rs1489254544 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:141244531 (GRCh38)
5:140624099 (GRCh37)
Canonical SPDI:: NC_000005.10:141244530:A:G
Gene:: PCDHB15 (Varview), PCDHB19P (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.141244531A>G, NW_004775428.1:g.479707A>G, NG_000017.2:g.212652A>G, NW_025791778.1:g.479707A>G, NC_000005.9:g.140624099A>G, NR_001282.2:n.4411A>G

Select item 14886962727.

rs1488696272 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTG>- [Show Flanks]
Chromosome:: 5:141248089 (GRCh38)
5:140627657 (GRCh37)
Canonical SPDI:: NC_000005.10:141248086:TGTCTG:TG
Gene:: PCDHB15 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TG=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000005.10:g.141248089_141248092del, NW_004775428.1:g.483265_483268del, NG_000017.2:g.216210_216213del, NW_025791778.1:g.483265_483268del, NC_000005.9:g.140627657_140627660del, NM_018935.4:c.*147_*150del, NM_018935.3:c.*147_*150del, NM_018935.2:c.*147_*150del

Select item 14882708468.

rs1488270846 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141244139 (GRCh38)
5:140623707 (GRCh37)
Canonical SPDI:: NC_000005.10:141244138:G:A
Gene:: PCDHB15 (Varview), PCDHB19P (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.141244139G>A, NW_004775428.1:g.479315G>A, NG_000017.2:g.212260G>A, NW_025791778.1:g.479315G>A, NC_000005.9:g.140623707G>A, NR_001282.2:n.4019G>A

Select item 14870223829.

rs1487022382 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 5:141244919 (GRCh38)
5:140624487 (GRCh37)
Canonical SPDI:: NC_000005.10:141244918:T:C,NC_000005.10:141244918:T:G
Gene:: PCDHB15 (Varview), PCDHB19P (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.141244919T>C, NC_000005.10:g.141244919T>G, NW_004775428.1:g.480095T>C, NW_004775428.1:g.480095T>G, NG_000017.2:g.213040T>C, NG_000017.2:g.213040T>G, NW_025791778.1:g.480095T>C, NW_025791778.1:g.480095T>G, NC_000005.9:g.140624487T>C, NC_000005.9:g.140624487T>G

Select item 148699214810.

rs1486992148 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:141245015 (GRCh38)
5:140624583 (GRCh37)
Canonical SPDI:: NC_000005.10:141245014:T:C
Gene:: PCDHB15 (Varview), PCDHB19P (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141245015T>C, NW_004775428.1:g.480191T>C, NG_000017.2:g.213136T>C, NW_025791778.1:g.480191T>C, NC_000005.9:g.140624583T>C

Select item 148650438811.

rs1486504388 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141244896 (GRCh38)
5:140624464 (GRCh37)
Canonical SPDI:: NC_000005.10:141244895:C:T
Gene:: PCDHB15 (Varview), PCDHB19P (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.141244896C>T, NW_004775428.1:g.480072C>T, NG_000017.2:g.213017C>T, NW_025791778.1:g.480072C>T, NC_000005.9:g.140624464C>T

Select item 148647324712.

rs1486473247 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:141244035 (GRCh38)
5:140623603 (GRCh37)
Canonical SPDI:: NC_000005.10:141244034:T:C
Gene:: PCDHB15 (Varview), PCDHB19P (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.141244035T>C, NW_004775428.1:g.479211T>C, NG_000017.2:g.212156T>C, NW_025791778.1:g.479211T>C, NC_000005.9:g.140623603T>C, NR_001282.2:n.3915T>C

Select item 148633547713.

rs1486335477 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141244260 (GRCh38)
5:140623828 (GRCh37)
Canonical SPDI:: NC_000005.10:141244259:G:A
Gene:: PCDHB15 (Varview), PCDHB19P (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141244260G>A, NW_004775428.1:g.479436G>A, NG_000017.2:g.212381G>A, NW_025791778.1:g.479436G>A, NC_000005.9:g.140623828G>A, NR_001282.2:n.4140G>A

Select item 148597762614.

rs1485977626 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:141243775 (GRCh38)
5:140623343 (GRCh37)
Canonical SPDI:: NC_000005.10:141243774:T:G
Gene:: PCDHB15 (Varview), PCDHB19P (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_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.141243775T>G, NW_004775428.1:g.478951T>G, NG_000017.2:g.211896T>G, NW_025791778.1:g.478951T>G, NC_000005.9:g.140623343T>G, NR_001282.2:n.3655T>G

Select item 148472045115.

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 148426172116.

rs1484261721 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141248372 (GRCh38)
5:140627940 (GRCh37)
Canonical SPDI:: NC_000005.10:141248371:C:T
Gene:: PCDHB15 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141248372C>T, NW_004775428.1:g.483548C>T, NG_000017.2:g.216493C>T, NW_025791778.1:g.483548C>T, NC_000005.9:g.140627940C>T, NM_018935.4:c.*430C>T

Select item 148408866417.

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 148387115318.

rs1483871153 has merged into rs527295727 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 5:141248004 (GRCh38)
5:140627572 (GRCh37)
Canonical SPDI:: NC_000005.10:141248003:TTTTTTTT:TTTTTTT,NC_000005.10:141248003:TTTTTTTT:TTTTTTTTT
Gene:: PCDHB15 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0.00005/1 (ALFA)
-=0.00022/1 (Estonian)
-=0.00047/2 (1000Genomes)
HGVS:: NC_000005.10:g.141248011del, NC_000005.10:g.141248011dup, NW_004775428.1:g.483187del, NW_004775428.1:g.483187dup, NG_000017.2:g.216132del, NG_000017.2:g.216132dup, NW_025791778.1:g.483187del, NW_025791778.1:g.483187dup, NC_000005.9:g.140627579del, NC_000005.9:g.140627579dup, NM_018935.4:c.*69del, NM_018935.4:c.*69dup, NM_018935.3:c.*69del, NM_018935.3:c.*69dup, NM_018935.2:c.*69del, NM_018935.2:c.*69dup

Select item 148293452419.

rs1482934524 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:141243875 (GRCh38)
5:140623443 (GRCh37)
Canonical SPDI:: NC_000005.10:141243874:T:C
Gene:: PCDHB15 (Varview), PCDHB19P (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.141243875T>C, NW_004775428.1:g.479051T>C, NG_000017.2:g.211996T>C, NW_025791778.1:g.479051T>C, NC_000005.9:g.140623443T>C, NR_001282.2:n.3755T>C

Select item 148291540620.

rs1482915406 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:141248547 (GRCh38)
5:140628115 (GRCh37)
Canonical SPDI:: NC_000005.10:141248546:G:A,NC_000005.10:141248546:G:C
Gene:: PCDHB15 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.141248547G>A, NC_000005.10:g.141248547G>C, NW_004775428.1:g.483723G>A, NW_004775428.1:g.483723G>C, NG_000017.2:g.216668G>A, NG_000017.2:g.216668G>C, NW_025791778.1:g.483723G>A, NW_025791778.1:g.483723G>C, NC_000005.9:g.140628115G>A, NC_000005.9:g.140628115G>C, NM_018935.4:c.*605G>A, NM_018935.4:c.*605G>C

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