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rs267606973

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606973(A;A)
Make rs267606973(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position48511336
GenePORCN
is asnp
is mentioned by
dbSNPrs267606973
ebirs267606973
HLIrs267606973
Exacrs267606973
Varsomers267606973
Maprs267606973
PheGenIrs267606973
hapmaprs267606973
1000 genomesrs267606973
hgdprs267606973
ensemblrs267606973
gopubmedrs267606973
geneviewrs267606973
scholarrs267606973
googlers267606973
pharmgkbrs267606973
gwascentralrs267606973
openSNPrs267606973
23andMers267606973
23andMe allrs267606973
SNP Nexus

SNPshotrs267606973
SNPdbers267606973
MSV3drs267606973
GWAS Ctlgrs267606973
Max Magnitude0
ClinVar
Risk rs267606973(A;A)
Alt rs267606973(A;A)
Reference rs267606973(G;G)
Significance Pathogenic
Disease Focal dermal hypoplasia
Variation info
Gene PORCN
CLNDBN Focal dermal hypoplasia
Reversed 0
HGVS NC_000023.10:g.48369724G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011447.6,