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rs387906473

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs387906473(-;-)
Make rs387906473(-;AT)
ReferenceGRCh38 38.1/141
ChromosomeX
Position55009244
GeneALAS2
is asnp
is mentioned by
dbSNPrs387906473
ebirs387906473
HLIrs387906473
Exacrs387906473
Varsomers387906473
Maprs387906473
PheGenIrs387906473
hapmaprs387906473
1000 genomesrs387906473
hgdprs387906473
ensemblrs387906473
gopubmedrs387906473
geneviewrs387906473
scholarrs387906473
googlers387906473
pharmgkbrs387906473
gwascentralrs387906473
openSNPrs387906473
23andMers387906473
23andMe allrs387906473
SNP Nexus

SNPshotrs387906473
SNPdbers387906473
MSV3drs387906473
GWAS Ctlgrs387906473
Max Magnitude0
ClinVar
Risk rs387906473(;)
Alt rs387906473(;)
Reference rs387906473(AT;AT)
Significance Pathogenic
Disease Protoporphyria
Variation info
Gene ALAS2
CLNDBN Protoporphyria, erythropoietic, X-linked
Reversed 1
HGVS NC_000023.10:g.55035677_55035678delAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000011229.7,