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rs387906472

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGTG;AGTG) 0 common in clinvar
Make rs387906472(-;-)
Make rs387906472(-;AGTG)
ReferenceGRCh38 38.1/141
ChromosomeX
Position55009235
GeneALAS2
is asnp
is mentioned by
dbSNPrs387906472
ebirs387906472
HLIrs387906472
Exacrs387906472
Varsomers387906472
Maprs387906472
PheGenIrs387906472
hapmaprs387906472
1000 genomesrs387906472
hgdprs387906472
ensemblrs387906472
gopubmedrs387906472
geneviewrs387906472
scholarrs387906472
googlers387906472
pharmgkbrs387906472
gwascentralrs387906472
openSNPrs387906472
23andMers387906472
23andMe allrs387906472
SNP Nexus

SNPshotrs387906472
SNPdbers387906472
MSV3drs387906472
GWAS Ctlgrs387906472
Max Magnitude0
ClinVar
Risk rs387906472(;)
Alt rs387906472(;)
Reference rs387906472(AGTG;AGTG)
Significance Pathogenic
Disease Protoporphyria
Variation info
Gene ALAS2
CLNDBN Protoporphyria, erythropoietic, X-linked
Reversed 1
HGVS NC_000023.10:g.55035668_55035671delCACT
CLNSRC OMIM Allelic Variant
CLNACC RCV000011228.6,