SNP Links for Gene (Select 56133) - SNP

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Items: 1 to 20 of 1302

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Select item 14906600061.

rs1490660006 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141097255 (GRCh38)
5:140476839 (GRCh37)
Canonical SPDI:: NC_000005.10:141097254:C:T
Gene:: PCDHB2 (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.141097255C>T, NW_004775428.1:g.332431C>T, NG_000017.2:g.65391C>T, NW_025791778.1:g.332431C>T, NC_000005.9:g.140476839C>T, NM_018936.4:c.*68C>T, NM_018936.3:c.*68C>T, NM_018936.2:c.*68C>T

Select item 14897795532.

rs1489779553 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:141097845 (GRCh38)
5:140477429 (GRCh37)
Canonical SPDI:: NC_000005.10:141097844:A:G
Gene:: PCDHB2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.141097845A>G, NW_004775428.1:g.333021A>G, NG_000017.2:g.65981A>G, NW_025791778.1:g.333021A>G, NC_000005.9:g.140477429A>G, NM_018936.4:c.*658A>G

Select item 14897393903.

rs1489739390 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:141092800 (GRCh38)
5:140472384 (GRCh37)
Canonical SPDI:: NC_000005.10:141092799:A:G
Gene:: PCDHB2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.141092800A>G, NW_004775428.1:g.327976A>G, NG_000017.2:g.60936A>G, NW_025791778.1:g.327976A>G, NC_000005.9:g.140472384A>G

Select item 14880138994.

rs1488013899 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATA>- [Show Flanks]
Chromosome:: 5:141095364 (GRCh38)
5:140474948 (GRCh37)
Canonical SPDI:: NC_000005.10:141095360:ATAATA:ATA
Gene:: PCDHB2 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: ATAATA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141095361ATA[1], NW_004775428.1:g.330537ATA[1], NG_000017.2:g.63497ATA[1], NW_025791778.1:g.330537ATA[1], NC_000005.9:g.140474945ATA[1], NM_018936.4:c.571ATA[1], NM_018936.3:c.571ATA[1], NM_018936.2:c.571ATA[1], NP_061759.1:p.Ile192del

Select item 14879510245.

rs1487951024 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:141096261 (GRCh38)
5:140475845 (GRCh37)
Canonical SPDI:: NC_000005.10:141096260:T:A
Gene:: PCDHB2 (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.141096261T>A, NW_004775428.1:g.331437T>A, NG_000017.2:g.64397T>A, NW_025791778.1:g.331437T>A, NC_000005.9:g.140475845T>A, NM_018936.4:c.1471T>A, NM_018936.3:c.1471T>A, NM_018936.2:c.1471T>A, NP_061759.1:p.Ser491Thr

Select item 14879207396.

rs1487920739 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141096318 (GRCh38)
5:140475902 (GRCh37)
Canonical SPDI:: NC_000005.10:141096317:G:A
Gene:: PCDHB2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00014/4 (TOMMO)
HGVS:: NC_000005.10:g.141096318G>A, NW_004775428.1:g.331494G>A, NG_000017.2:g.64454G>A, NW_025791778.1:g.331494G>A, NC_000005.9:g.140475902G>A, NM_018936.4:c.1528G>A, NM_018936.3:c.1528G>A, NM_018936.2:c.1528G>A, NP_061759.1:p.Ala510Thr

Select item 14875591927.

rs1487559192 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:141096252 (GRCh38)
5:140475836 (GRCh37)
Canonical SPDI:: NC_000005.10:141096251:G:T
Gene:: PCDHB2 (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.141096252G>T, NW_004775428.1:g.331428G>T, NG_000017.2:g.64388G>T, NW_025791778.1:g.331428G>T, NC_000005.9:g.140475836G>T, NM_018936.4:c.1462G>T, NM_018936.3:c.1462G>T, NM_018936.2:c.1462G>T, NP_061759.1:p.Val488Phe

Select item 14863739218.

rs1486373921 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141094823 (GRCh38)
5:140474407 (GRCh37)
Canonical SPDI:: NC_000005.10:141094822:G:A
Gene:: PCDHB2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.141094823G>A, NW_004775428.1:g.329999G>A, NG_000017.2:g.62959G>A, NW_025791778.1:g.329999G>A, NC_000005.9:g.140474407G>A, NM_018936.4:c.33G>A, NM_018936.3:c.33G>A, NM_018936.2:c.33G>A

Select item 14860462639.

rs1486046263 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141094416 (GRCh38)
5:140474001 (GRCh37)
Canonical SPDI:: NC_000005.10:141094415:C:T
Gene:: PCDHB2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141094416C>T, NW_004775428.1:g.329592C>T, NG_000017.2:g.62553C>T, NW_025791778.1:g.329592C>T, NC_000005.9:g.140474001C>T

Select item 148440934910.

rs1484409349 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141093816 (GRCh38)
5:140473400 (GRCh37)
Canonical SPDI:: NC_000005.10:141093815:G:A
Gene:: PCDHB2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000005.10:g.141093816G>A, NW_004775428.1:g.328992G>A, NG_000017.2:g.61952G>A, NW_025791778.1:g.328992G>A, NC_000005.9:g.140473400G>A

Select item 148407740911.

rs1484077409 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 5:141093287 (GRCh38)
5:140472871 (GRCh37)
Canonical SPDI:: NC_000005.10:141093286:C:A,NC_000005.10:141093286:C:G
Gene:: PCDHB2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141093287C>A, NC_000005.10:g.141093287C>G, NW_004775428.1:g.328463C>A, NW_004775428.1:g.328463C>G, NG_000017.2:g.61423C>A, NG_000017.2:g.61423C>G, NW_025791778.1:g.328463C>A, NW_025791778.1:g.328463C>G, NC_000005.9:g.140472871C>A, NC_000005.9:g.140472871C>G

Select item 148359558512.

rs1483595585 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141093069 (GRCh38)
5:140472653 (GRCh37)
Canonical SPDI:: NC_000005.10:141093068:C:T
Gene:: PCDHB2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.141093069C>T, NW_004775428.1:g.328245C>T, NG_000017.2:g.61205C>T, NW_025791778.1:g.328245C>T, NC_000005.9:g.140472653C>T

Select item 148244478013.

rs1482444780 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATTG>- [Show Flanks]
Chromosome:: 5:141092650 (GRCh38)
5:140472234 (GRCh37)
Canonical SPDI:: NC_000005.10:141092646:TTGATTG:TTG
Gene:: PCDHB2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTG=0.000214/3 (ALFA)
-=0.000121/17 (GnomAD)
-=0.000136/36 (TOPMED)
HGVS:: NC_000005.10:g.141092650_141092653del, NW_004775428.1:g.327826_327829del, NG_000017.2:g.60786_60789del, NW_025791778.1:g.327826_327829del, NC_000005.9:g.140472234_140472237del

Select item 148123736414.

rs1481237364 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141094001 (GRCh38)
5:140473585 (GRCh37)
Canonical SPDI:: NC_000005.10:141094000:G:A
Gene:: PCDHB2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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.141094001G>A, NW_004775428.1:g.329177G>A, NG_000017.2:g.62137G>A, NW_025791778.1:g.329177G>A, NC_000005.9:g.140473585G>A

Select item 148104584915.

rs1481045849 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:141097378 (GRCh38)
5:140476962 (GRCh37)
Canonical SPDI:: NC_000005.10:141097377:T:A
Gene:: PCDHB2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141097378T>A, NW_004775428.1:g.332554T>A, NG_000017.2:g.65514T>A, NW_025791778.1:g.332554T>A, NC_000005.9:g.140476962T>A, NM_018936.4:c.*191T>A, NM_018936.3:c.*191T>A, NM_018936.2:c.*191T>A

Select item 147909797216.

rs1479097972 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:141097582 (GRCh38)
5:140477166 (GRCh37)
Canonical SPDI:: NC_000005.10:141097581:T:A,NC_000005.10:141097581:T:C
Gene:: PCDHB2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.141097582T>A, NC_000005.10:g.141097582T>C, NW_004775428.1:g.332758T>A, NW_004775428.1:g.332758T>C, NG_000017.2:g.65718T>A, NG_000017.2:g.65718T>C, NW_025791778.1:g.332758T>A, NW_025791778.1:g.332758T>C, NC_000005.9:g.140477166T>A, NC_000005.9:g.140477166T>C, NM_018936.4:c.*395T>A, NM_018936.4:c.*395T>C

Select item 147908873617.

rs1479088736 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:141096595 (GRCh38)
5:140476179 (GRCh37)
Canonical SPDI:: NC_000005.10:141096594:C:G,NC_000005.10:141096594:C:T
Gene:: PCDHB2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141096595C>G, NC_000005.10:g.141096595C>T, NW_004775428.1:g.331771C>G, NW_004775428.1:g.331771C>T, NG_000017.2:g.64731C>G, NG_000017.2:g.64731C>T, NW_025791778.1:g.331771C>G, NW_025791778.1:g.331771C>T, NC_000005.9:g.140476179C>G, NC_000005.9:g.140476179C>T, NM_018936.4:c.1805C>G, NM_018936.4:c.1805C>T, NM_018936.3:c.1805C>G, NM_018936.3:c.1805C>T, NM_018936.2:c.1805C>G, NM_018936.2:c.1805C>T, NP_061759.1:p.Ala602Gly, NP_061759.1:p.Ala602Val

Select item 147896258818.

rs1478962588 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:141097826 (GRCh38)
5:140477410 (GRCh37)
Canonical SPDI:: NC_000005.10:141097825:A:G
Gene:: PCDHB2 (Varview)
Functional Consequence:: 3_prime_UTR_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.141097826A>G, NW_004775428.1:g.333002A>G, NG_000017.2:g.65962A>G, NW_025791778.1:g.333002A>G, NC_000005.9:g.140477410A>G, NM_018936.4:c.*639A>G

Select item 147751540319.

rs1477515403 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141095493 (GRCh38)
5:140475077 (GRCh37)
Canonical SPDI:: NC_000005.10:141095492:G:A
Gene:: PCDHB2 (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.141095493G>A, NW_004775428.1:g.330669G>A, NG_000017.2:g.63629G>A, NW_025791778.1:g.330669G>A, NC_000005.9:g.140475077G>A, NM_018936.4:c.703G>A, NM_018936.3:c.703G>A, NM_018936.2:c.703G>A, NP_061759.1:p.Val235Met

Select item 147748709920.

rs1477487099 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:141095890 (GRCh38)
5:140475474 (GRCh37)
Canonical SPDI:: NC_000005.10:141095889:T:A,NC_000005.10:141095889:T:C
Gene:: PCDHB2 (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)
HGVS:: NC_000005.10:g.141095890T>A, NC_000005.10:g.141095890T>C, NW_004775428.1:g.331066T>A, NW_004775428.1:g.331066T>C, NG_000017.2:g.64026T>A, NG_000017.2:g.64026T>C, NW_025791778.1:g.331066T>A, NW_025791778.1:g.331066T>C, NC_000005.9:g.140475474T>A, NC_000005.9:g.140475474T>C, NM_018936.4:c.1100T>A, NM_018936.4:c.1100T>C, NM_018936.3:c.1100T>A, NM_018936.3:c.1100T>C, NM_018936.2:c.1100T>A, NM_018936.2:c.1100T>C, NP_061759.1:p.Ile367Asn, NP_061759.1:p.Ile367Thr

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