Have questions? Visit https://www.reddit.com/r/SNPedia

rs387906723

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906723(A;A)
Make rs387906723(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position48516082
GenePORCN
is asnp
is mentioned by
dbSNPrs387906723
ebirs387906723
HLIrs387906723
Exacrs387906723
Varsomers387906723
Maprs387906723
PheGenIrs387906723
hapmaprs387906723
1000 genomesrs387906723
hgdprs387906723
ensemblrs387906723
gopubmedrs387906723
geneviewrs387906723
scholarrs387906723
googlers387906723
pharmgkbrs387906723
gwascentralrs387906723
openSNPrs387906723
23andMers387906723
23andMe allrs387906723
SNP Nexus

SNPshotrs387906723
SNPdbers387906723
MSV3drs387906723
GWAS Ctlgrs387906723
Max Magnitude0
ClinVar
Risk rs387906723(A;A)
Alt rs387906723(A;A)
Reference rs387906723(G;G)
Significance Pathogenic
Disease Focal dermal hypoplasia
Variation info
Gene PORCN
CLNDBN Focal dermal hypoplasia
Reversed 0
HGVS NC_000023.10:g.48374470G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022872.5,