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rs137852218

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852218(C;T)
Make rs137852218(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position48511932
GenePORCN
is asnp
is mentioned by
dbSNPrs137852218
ebirs137852218
HLIrs137852218
Exacrs137852218
Varsomers137852218
Maprs137852218
PheGenIrs137852218
hapmaprs137852218
1000 genomesrs137852218
hgdprs137852218
ensemblrs137852218
gopubmedrs137852218
geneviewrs137852218
scholarrs137852218
googlers137852218
pharmgkbrs137852218
gwascentralrs137852218
openSNPrs137852218
23andMers137852218
23andMe allrs137852218
SNP Nexus

SNPshotrs137852218
SNPdbers137852218
MSV3drs137852218
GWAS Ctlgrs137852218
Max Magnitude0
OMIM300651
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137852218(T;T)
Alt rs137852218(T;T)
Reference rs137852218(C;C)
Significance Pathogenic
Disease Focal dermal hypoplasia
Variation info
Gene PORCN
CLNDBN Focal dermal hypoplasia
Reversed 0
HGVS NC_000023.10:g.48370320C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011448.3,