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rs118204107

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 5 Porphyria, acute intermittent
(A;G) 4 Porphyria, acute intermittent
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome11
Position119089747
GeneHMBS
is asnp
is mentioned by
dbSNPrs118204107
ebirs118204107
HLIrs118204107
Exacrs118204107
Varsomers118204107
Maprs118204107
PheGenIrs118204107
hapmaprs118204107
1000 genomesrs118204107
hgdprs118204107
ensemblrs118204107
gopubmedrs118204107
geneviewrs118204107
scholarrs118204107
googlers118204107
pharmgkbrs118204107
gwascentralrs118204107
openSNPrs118204107
23andMers118204107
23andMe allrs118204107
SNP Nexus

SNPshotrs118204107
SNPdbers118204107
MSV3drs118204107
GWAS Ctlgrs118204107
Max Magnitude5
OMIM609806
Desc
Variant0023
Relatedalso
ClinVar
Risk rs118204107(A;A)
Alt rs118204107(A;A)
Reference rs118204107(G;G)
Significance Pathogenic
Disease Acute intermittent porphyria
Variation info
Gene HMBS
CLNDBN Acute intermittent porphyria
Reversed 0
HGVS NC_000011.9:g.118960457G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001529.3,