Have questions? Visit https://www.reddit.com/r/SNPedia

rs118204116

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
Position119092159
GeneHMBS
is asnp
is mentioned by
dbSNPrs118204116
ebirs118204116
HLIrs118204116
Exacrs118204116
Varsomers118204116
Maprs118204116
PheGenIrs118204116
hapmaprs118204116
1000 genomesrs118204116
hgdprs118204116
ensemblrs118204116
gopubmedrs118204116
geneviewrs118204116
scholarrs118204116
googlers118204116
pharmgkbrs118204116
gwascentralrs118204116
openSNPrs118204116
23andMers118204116
23andMe allrs118204116
SNP Nexus

SNPshotrs118204116
SNPdbers118204116
MSV3drs118204116
GWAS Ctlgrs118204116
Max Magnitude5
OMIM609806
Desc
Variant0038
Relatedalso
ClinVar
Risk rs118204116(A;A)
Alt rs118204116(A;A)
Reference rs118204116(G;G)
Significance Pathogenic
Disease Acute intermittent porphyria
Variation info
Gene HMBS
CLNDBN Acute intermittent porphyria
Reversed 0
HGVS NC_000011.9:g.118962869G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001543.2,