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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
GeneNECTIN4
is asnp
is mentioned by
dbSNPrs267606992
dbSNP (classic)rs267606992
ClinGenrs267606992
ebirs267606992
HLIrs267606992
Exacrs267606992
Gnomadrs267606992
Varsomers267606992
LitVarrs267606992
Maprs267606992
PheGenIrs267606992
Biobankrs267606992
1000 genomesrs267606992
hgdprs267606992
ensemblrs267606992
geneviewrs267606992
scholarrs267606992
googlers267606992
pharmgkbrs267606992
gwascentralrs267606992
openSNPrs267606992
23andMers267606992
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 NECTIN4 PVRL4
CLNDBN Ectodermal dysplasia-syndactyly syndrome 1
Reversed 1
HGVS NC_000001.10:g.161047419G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001668.4,