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

rs118204098

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
Position119090213
GeneHMBS
is asnp
is mentioned by
dbSNPrs118204098
ebirs118204098
HLIrs118204098
Exacrs118204098
Varsomers118204098
Maprs118204098
PheGenIrs118204098
hapmaprs118204098
1000 genomesrs118204098
hgdprs118204098
ensemblrs118204098
gopubmedrs118204098
geneviewrs118204098
scholarrs118204098
googlers118204098
pharmgkbrs118204098
gwascentralrs118204098
openSNPrs118204098
23andMers118204098
23andMe allrs118204098
SNP Nexus

SNPshotrs118204098
SNPdbers118204098
MSV3drs118204098
GWAS Ctlgrs118204098
Max Magnitude5
OMIM609806
Desc
Variant0008
Relatedalso
ClinVar
Risk rs118204098(A;A)
Alt rs118204098(A;A)
Reference rs118204098(G;G)
Significance Pathogenic
Disease Acute intermittent porphyria
Variation info
Gene HMBS
CLNDBN Acute intermittent porphyria
Reversed 0
HGVS NC_000011.9:g.118960923G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001514.2,