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rs137852219

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852219(A;A)
Make rs137852219(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position48511380
GenePORCN
is asnp
is mentioned by
dbSNPrs137852219
ebirs137852219
HLIrs137852219
Exacrs137852219
Varsomers137852219
Maprs137852219
PheGenIrs137852219
hapmaprs137852219
1000 genomesrs137852219
hgdprs137852219
ensemblrs137852219
gopubmedrs137852219
geneviewrs137852219
scholarrs137852219
googlers137852219
pharmgkbrs137852219
gwascentralrs137852219
openSNPrs137852219
23andMers137852219
23andMe allrs137852219
SNP Nexus

SNPshotrs137852219
SNPdbers137852219
MSV3drs137852219
GWAS Ctlgrs137852219
Max Magnitude0
OMIM300651
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137852219(A;A)
Alt rs137852219(A;A)
Reference rs137852219(G;G)
Significance Pathogenic
Disease Focal dermal hypoplasia
Variation info
Gene PORCN
CLNDBN Focal dermal hypoplasia
Reversed 0
HGVS NC_000023.10:g.48369768G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011449.3,