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rs387907014

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907014(C;G)
Make rs387907014(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position161077548
GenePVRL4
is asnp
is mentioned by
dbSNPrs387907014
ebirs387907014
HLIrs387907014
Exacrs387907014
Varsomers387907014
Maprs387907014
PheGenIrs387907014
hapmaprs387907014
1000 genomesrs387907014
hgdprs387907014
ensemblrs387907014
gopubmedrs387907014
geneviewrs387907014
scholarrs387907014
googlers387907014
pharmgkbrs387907014
gwascentralrs387907014
openSNPrs387907014
23andMers387907014
23andMe allrs387907014
SNP Nexus

SNPshotrs387907014
SNPdbers387907014
MSV3drs387907014
GWAS Ctlgrs387907014
Max Magnitude0
ClinVar
Risk rs387907014(G;G)
Alt rs387907014(G;G)
Reference rs387907014(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.161047338G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023779.3,