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rs139596860

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs139596860(A;A)
Make rs139596860(A;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position55009187
GeneALAS2
is asnp
is mentioned by
dbSNPrs139596860
ebirs139596860
HLIrs139596860
Exacrs139596860
Varsomers139596860
Maprs139596860
PheGenIrs139596860
hapmaprs139596860
1000 genomesrs139596860
hgdprs139596860
ensemblrs139596860
gopubmedrs139596860
geneviewrs139596860
scholarrs139596860
googlers139596860
pharmgkbrs139596860
gwascentralrs139596860
openSNPrs139596860
23andMers139596860
23andMe allrs139596860
SNP Nexus

SNPshotrs139596860
SNPdbers139596860
MSV3drs139596860
GWAS Ctlgrs139596860
GMAF0.0
Max Magnitude0
ClinVar
Risk rs139596860(A;A)
Alt rs139596860(A;A)
Reference rs139596860(T;T)
Significance Pathogenic
Disease Protoporphyria not specified
Variation info
Gene ALAS2
CLNDBN Protoporphyria, erythropoietic, X-linked not specified
Reversed 0
HGVS NC_000023.10:g.55035620T>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000033870.2, RCV000199418.1,