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rs118204096

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
Position119091432
GeneHMBS
is asnp
is mentioned by
dbSNPrs118204096
ebirs118204096
HLIrs118204096
Exacrs118204096
Varsomers118204096
Maprs118204096
PheGenIrs118204096
hapmaprs118204096
1000 genomesrs118204096
hgdprs118204096
ensemblrs118204096
gopubmedrs118204096
geneviewrs118204096
scholarrs118204096
googlers118204096
pharmgkbrs118204096
gwascentralrs118204096
openSNPrs118204096
23andMers118204096
23andMe allrs118204096
SNP Nexus

SNPshotrs118204096
SNPdbers118204096
MSV3drs118204096
GWAS Ctlgrs118204096
Max Magnitude5
OMIM609806
Desc
Variant0006
Relatedalso
ClinVar
Risk rs118204096(A;A)
Alt rs118204096(A;A)
Reference rs118204096(G;G)
Significance Pathogenic
Disease Acute intermittent porphyria
Variation info
Gene HMBS
CLNDBN Acute intermittent porphyria
Reversed 0
HGVS NC_000011.9:g.118962142G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001512.2,