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rs118204113

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
Position119092506
GeneHMBS
is asnp
is mentioned by
dbSNPrs118204113
ebirs118204113
HLIrs118204113
Exacrs118204113
Varsomers118204113
Maprs118204113
PheGenIrs118204113
hapmaprs118204113
1000 genomesrs118204113
hgdprs118204113
ensemblrs118204113
gopubmedrs118204113
geneviewrs118204113
scholarrs118204113
googlers118204113
pharmgkbrs118204113
gwascentralrs118204113
openSNPrs118204113
23andMers118204113
23andMe allrs118204113
SNP Nexus

SNPshotrs118204113
SNPdbers118204113
MSV3drs118204113
GWAS Ctlgrs118204113
Max Magnitude5
OMIM609806
Desc
Variant0032
Relatedalso
ClinVar
Risk rs118204113(A;A)
Alt rs118204113(A;A)
Reference rs118204113(G;G)
Significance Pathogenic
Disease Acute intermittent porphyria
Variation info
Gene HMBS
CLNDBN Acute intermittent porphyria
Reversed 0
HGVS NC_000011.9:g.118963216G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001537.3,