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rs1057519006

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519006(C;C)
Make rs1057519006(C;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position48512598
GenePORCN
is asnp
is mentioned by
dbSNPrs1057519006
dbSNP (old)rs1057519006
ClinGenrs1057519006
ebirs1057519006
HLIrs1057519006
Exacrs1057519006
Gnomadrs1057519006
Varsomers1057519006
Maprs1057519006
PheGenIrs1057519006
Biobankrs1057519006
1000 genomesrs1057519006
hgdprs1057519006
ensemblrs1057519006
gopubmedrs1057519006
geneviewrs1057519006
scholarrs1057519006
googlers1057519006
pharmgkbrs1057519006
gwascentralrs1057519006
openSNPrs1057519006
23andMers1057519006
23andMe allrs1057519006
SNPshotrs1057519006
SNPdbers1057519006
MSV3drs1057519006
GWAS Ctlgrs1057519006
Max Magnitude0
ClinVar
Risk rs1057519006(C;C)
Alt rs1057519006(C;C)
Reference Rs1057519006(T;T)
Significance Probable-Pathogenic
Disease Focal dermal hypoplasia
Variation info
Gene PORCN
CLNDBN Focal dermal hypoplasia
Reversed 0
HGVS NC_000023.10:g.48370986T>C
CLNSRC
CLNACC RCV000414798.1,