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rs267606992

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606992(C;T)
Make rs267606992(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position161077629
GenePVRL4
is asnp
is mentioned by
dbSNPrs267606992
ebirs267606992
HLIrs267606992
Exacrs267606992
Varsomers267606992
Maprs267606992
PheGenIrs267606992
hapmaprs267606992
1000 genomesrs267606992
hgdprs267606992
ensemblrs267606992
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geneviewrs267606992
scholarrs267606992
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openSNPrs267606992
23andMers267606992
23andMe allrs267606992
SNP Nexus

SNPshotrs267606992
SNPdbers267606992
MSV3drs267606992
GWAS Ctlgrs267606992
Max Magnitude0
ClinVar
Risk rs267606992(T;T)
Alt rs267606992(T;T)
Reference rs267606992(C;C)
Significance Pathogenic
Disease Ectodermal dysplasia-syndactyly syndrome 1
Variation info
Gene PVRL4
CLNDBN Ectodermal dysplasia-syndactyly syndrome 1
Reversed 1
HGVS NC_000001.10:g.161047419G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001668.3,