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rs118204112

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
Position119092500
GeneHMBS
is asnp
is mentioned by
dbSNPrs118204112
ebirs118204112
HLIrs118204112
Exacrs118204112
Varsomers118204112
Maprs118204112
PheGenIrs118204112
hapmaprs118204112
1000 genomesrs118204112
hgdprs118204112
ensemblrs118204112
gopubmedrs118204112
geneviewrs118204112
scholarrs118204112
googlers118204112
pharmgkbrs118204112
gwascentralrs118204112
openSNPrs118204112
23andMers118204112
23andMe allrs118204112
SNP Nexus

SNPshotrs118204112
SNPdbers118204112
MSV3drs118204112
GWAS Ctlgrs118204112
Max Magnitude5
OMIM609806
Desc
Variant0031
Relatedalso
ClinVar
Risk rs118204112(A;A)
Alt rs118204112(A;A)
Reference rs118204112(G;G)
Significance Pathogenic
Disease Acute intermittent porphyria
Variation info
Gene HMBS
CLNDBN Acute intermittent porphyria
Reversed 0
HGVS NC_000011.9:g.118963210G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001536.3,