SNP Links for Gene (Select 56129) - SNP

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Select item 14907925011.

rs1490792501 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:141170760 (GRCh38)
5:140550341 (GRCh37)
Canonical SPDI:: NC_000005.10:141170759:A:C
Gene:: PCDHB7 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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.141170760A>C, NW_004775428.1:g.405936A>C, NG_000017.2:g.138893A>C, NW_025791778.1:g.405936A>C, NC_000005.9:g.140550341A>C

Select item 14907775532.

rs1490777553 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:141171973 (GRCh38)
5:140551554 (GRCh37)
Canonical SPDI:: NC_000005.10:141171972:T:C
Gene:: PCDHB7 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141171973T>C, NW_004775428.1:g.407149T>C, NG_000017.2:g.140106T>C, NW_025791778.1:g.407149T>C, NC_000005.9:g.140551554T>C

Select item 14905976193.

rs1490597619 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:141171422 (GRCh38)
5:140551003 (GRCh37)
Canonical SPDI:: NC_000005.10:141171421:T:C
Gene:: PCDHB7 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.141171422T>C, NW_004775428.1:g.406598T>C, NG_000017.2:g.139555T>C, NW_025791778.1:g.406598T>C, NC_000005.9:g.140551003T>C

Select item 14902160264.

rs1490216026 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:141176803 (GRCh38)
5:140556384 (GRCh37)
Canonical SPDI:: NC_000005.10:141176802:T:C
Gene:: PCDHB8 (Varview), PCDHB7 (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=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141176803T>C, NW_004775428.1:g.411979T>C, NG_000017.2:g.144936T>C, NW_025791778.1:g.411979T>C, NC_000005.9:g.140556384T>C

Select item 14901798295.

rs1490179829 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:141176731 (GRCh38)
5:140556312 (GRCh37)
Canonical SPDI:: NC_000005.10:141176730:C:A
Gene:: PCDHB8 (Varview), PCDHB7 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141176731C>A, NW_004775428.1:g.411907C>A, NG_000017.2:g.144864C>A, NW_025791778.1:g.411907C>A, NC_000005.9:g.140556312C>A

Select item 14890280116.

rs1489028011 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141175491 (GRCh38)
5:140555072 (GRCh37)
Canonical SPDI:: NC_000005.10:141175490:C:T
Gene:: PCDHB7 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.141175491C>T, NW_004775428.1:g.410667C>T, NG_000017.2:g.143624C>T, NW_025791778.1:g.410667C>T, NC_000005.9:g.140555072C>T, NM_018940.4:c.*274C>T, NM_018940.3:c.*274C>T, NM_018940.2:c.*274C>T

Select item 14889985887.

rs1488998588 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:141176424 (GRCh38)
5:140556005 (GRCh37)
Canonical SPDI:: NC_000005.10:141176423:A:G
Gene:: PCDHB8 (Varview), PCDHB7 (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)
G=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.141176424A>G, NW_004775428.1:g.411600A>G, NG_000017.2:g.144557A>G, NW_025791778.1:g.411600A>G, NC_000005.9:g.140556005A>G

Select item 14887040238.

rs1488704023 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:141175112 (GRCh38)
5:140554693 (GRCh37)
Canonical SPDI:: NC_000005.10:141175111:A:C
Gene:: PCDHB7 (Varview)
Functional Consequence:: synonymous_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.141175112A>C, NW_004775428.1:g.410288A>C, NG_000017.2:g.143245A>C, NW_025791778.1:g.410288A>C, NC_000005.9:g.140554693A>C, NM_018940.4:c.2277A>C, NM_018940.3:c.2277A>C, NM_018940.2:c.2277A>C

Select item 14886689369.

rs1488668936 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 5:141175987 (GRCh38)
5:140555568 (GRCh37)
Canonical SPDI:: NC_000005.10:141175986:A:C,NC_000005.10:141175986:A:G
Gene:: PCDHB8 (Varview), PCDHB7 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.141175987A>C, NC_000005.10:g.141175987A>G, NW_004775428.1:g.411163A>C, NW_004775428.1:g.411163A>G, NG_000017.2:g.144120A>C, NG_000017.2:g.144120A>G, NW_025791778.1:g.411163A>C, NW_025791778.1:g.411163A>G, NC_000005.9:g.140555568A>C, NC_000005.9:g.140555568A>G, NM_018940.4:c.*770A>C, NM_018940.4:c.*770A>G, NM_018940.3:c.*770A>C, NM_018940.3:c.*770A>G, NM_018940.2:c.*770A>C, NM_018940.2:c.*770A>G

Select item 148831734910.

rs1488317349 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:141175023 (GRCh38)
5:140554604 (GRCh37)
Canonical SPDI:: NC_000005.10:141175022:T:A,NC_000005.10:141175022:T:C
Gene:: PCDHB7 (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)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141175023T>A, NC_000005.10:g.141175023T>C, NW_004775428.1:g.410199T>A, NW_004775428.1:g.410199T>C, NG_000017.2:g.143156T>A, NG_000017.2:g.143156T>C, NW_025791778.1:g.410199T>A, NW_025791778.1:g.410199T>C, NC_000005.9:g.140554604T>A, NC_000005.9:g.140554604T>C, NM_018940.4:c.2188T>A, NM_018940.4:c.2188T>C, NM_018940.3:c.2188T>A, NM_018940.3:c.2188T>C, NM_018940.2:c.2188T>A, NM_018940.2:c.2188T>C, NP_061763.1:p.Phe730Ile, NP_061763.1:p.Phe730Leu

Select item 148824506611.

rs1488245066 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:141175886 (GRCh38)
5:140555467 (GRCh37)
Canonical SPDI:: NC_000005.10:141175885:T:A,NC_000005.10:141175885:T:C
Gene:: PCDHB8 (Varview), PCDHB7 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00006/1 (TOMMO)
HGVS:: NC_000005.10:g.141175886T>A, NC_000005.10:g.141175886T>C, NW_004775428.1:g.411062T>A, NW_004775428.1:g.411062T>C, NG_000017.2:g.144019T>A, NG_000017.2:g.144019T>C, NW_025791778.1:g.411062T>A, NW_025791778.1:g.411062T>C, NC_000005.9:g.140555467T>A, NC_000005.9:g.140555467T>C, NM_018940.4:c.*669T>A, NM_018940.4:c.*669T>C, NM_018940.3:c.*669T>A, NM_018940.3:c.*669T>C, NM_018940.2:c.*669T>A, NM_018940.2:c.*669T>C

Select item 148721737812.

rs1487217378 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 5:141173100 (GRCh38)
5:140552681 (GRCh37)
Canonical SPDI:: NC_000005.10:141173099:AAA:AA
Gene:: PCDHB7 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141173102del, NW_004775428.1:g.408278del, NG_000017.2:g.141235del, NW_025791778.1:g.408278del, NC_000005.9:g.140552683del, NM_018940.4:c.267del, NM_018940.3:c.267del, NM_018940.2:c.267del, NP_061763.1:p.Lys89fs

Select item 148706623913.

rs1487066239 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:141174820 (GRCh38)
5:140554401 (GRCh37)
Canonical SPDI:: NC_000005.10:141174819:T:A
Gene:: PCDHB7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141174820T>A, NW_004775428.1:g.409996T>A, NG_000017.2:g.142953T>A, NW_025791778.1:g.409996T>A, NC_000005.9:g.140554401T>A, NM_018940.4:c.1985T>A, NM_018940.3:c.1985T>A, NM_018940.2:c.1985T>A, NP_061763.1:p.Leu662Gln

Select item 148698348114.

rs1486983481 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:141171566 (GRCh38)
5:140551147 (GRCh37)
Canonical SPDI:: NC_000005.10:141171565:A:G
Gene:: PCDHB7 (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=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141171566A>G, NW_004775428.1:g.406742A>G, NG_000017.2:g.139699A>G, NW_025791778.1:g.406742A>G, NC_000005.9:g.140551147A>G

Select item 148675383515.

rs1486753835 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:141174560 (GRCh38)
5:140554141 (GRCh37)
Canonical SPDI:: NC_000005.10:141174559:G:T
Gene:: PCDHB7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00003/8 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000005.10:g.141174560G>T, NW_004775428.1:g.409736G>T, NG_000017.2:g.142693G>T, NW_025791778.1:g.409736G>T, NC_000005.9:g.140554141G>T, NM_018940.4:c.1725G>T, NM_018940.3:c.1725G>T, NM_018940.2:c.1725G>T

Select item 148514938016.

rs1485149380 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:141173719 (GRCh38)
5:140553300 (GRCh37)
Canonical SPDI:: NC_000005.10:141173718:A:G
Gene:: PCDHB7 (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=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141173719A>G, NW_004775428.1:g.408895A>G, NG_000017.2:g.141852A>G, NW_025791778.1:g.408895A>G, NC_000005.9:g.140553300A>G, NM_018940.4:c.884A>G, NM_018940.3:c.884A>G, NM_018940.2:c.884A>G, NP_061763.1:p.Asn295Ser

Select item 148511913617.

rs1485119136 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:141174355 (GRCh38)
5:140553936 (GRCh37)
Canonical SPDI:: NC_000005.10:141174354:A:G
Gene:: PCDHB7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141174355A>G, NW_004775428.1:g.409531A>G, NG_000017.2:g.142488A>G, NW_025791778.1:g.409531A>G, NC_000005.9:g.140553936A>G, NM_018940.4:c.1520A>G, NM_018940.3:c.1520A>G, NM_018940.2:c.1520A>G, NP_061763.1:p.Asn507Ser

Select item 148482518318.

rs1484825183 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:141173692 (GRCh38)
5:140553273 (GRCh37)
Canonical SPDI:: NC_000005.10:141173691:A:T
Gene:: PCDHB7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.001062/18 (TOMMO)
HGVS:: NC_000005.10:g.141173692A>T, NW_004775428.1:g.408868A>T, NG_000017.2:g.141825A>T, NW_025791778.1:g.408868A>T, NC_000005.9:g.140553273A>T, NM_018940.4:c.857A>T, NM_018940.3:c.857A>T, NM_018940.2:c.857A>T, NP_061763.1:p.Glu286Val

Select item 148416311519.

rs1484163115 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:141176003 (GRCh38)
5:140555584 (GRCh37)
Canonical SPDI:: NC_000005.10:141176002:T:C
Gene:: PCDHB8 (Varview), PCDHB7 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000342/1 (KOREAN)
HGVS:: NC_000005.10:g.141176003T>C, NW_004775428.1:g.411179T>C, NG_000017.2:g.144136T>C, NW_025791778.1:g.411179T>C, NC_000005.9:g.140555584T>C, NM_018940.4:c.*786T>C, NM_018940.3:c.*786T>C, NM_018940.2:c.*786T>C

Select item 148325101720.

rs1483251017 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141172994 (GRCh38)
5:140552575 (GRCh37)
Canonical SPDI:: NC_000005.10:141172993:G:A
Gene:: PCDHB7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141172994G>A, NW_004775428.1:g.408170G>A, NG_000017.2:g.141127G>A, NW_025791778.1:g.408170G>A, NC_000005.9:g.140552575G>A, NM_018940.4:c.159G>A, NM_018940.3:c.159G>A, NM_018940.2:c.159G>A

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