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rs397514730

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514730(C;T)
Make rs397514730(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position55009302
GeneALAS2
is asnp
is mentioned by
dbSNPrs397514730
ebirs397514730
HLIrs397514730
Exacrs397514730
Varsomers397514730
Maprs397514730
PheGenIrs397514730
hapmaprs397514730
1000 genomesrs397514730
hgdprs397514730
ensemblrs397514730
gopubmedrs397514730
geneviewrs397514730
scholarrs397514730
googlers397514730
pharmgkbrs397514730
gwascentralrs397514730
openSNPrs397514730
23andMers397514730
23andMe allrs397514730
SNP Nexus

SNPshotrs397514730
SNPdbers397514730
MSV3drs397514730
GWAS Ctlgrs397514730
Max Magnitude0
ClinVar
Risk rs397514730(T;T)
Alt rs397514730(T;T)
Reference rs397514730(C;C)
Significance Pathogenic
Disease Protoporphyria
Variation info
Gene ALAS2
CLNDBN Protoporphyria, erythropoietic, X-linked
Reversed 1
HGVS NC_000023.10:g.55035735G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000054488.3,