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rs118204094

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 4 Porphyria, acute intermittent
(T;T) 5 Porphyria, acute intermittent
ReferenceGRCh38 38.1/141
Chromosome11
Position119089991
GeneHMBS
is asnp
is mentioned by
dbSNPrs118204094
ebirs118204094
HLIrs118204094
Exacrs118204094
Varsomers118204094
Maprs118204094
PheGenIrs118204094
hapmaprs118204094
1000 genomesrs118204094
hgdprs118204094
ensemblrs118204094
gopubmedrs118204094
geneviewrs118204094
scholarrs118204094
googlers118204094
pharmgkbrs118204094
gwascentralrs118204094
openSNPrs118204094
23andMers118204094
23andMe allrs118204094
SNP Nexus

SNPshotrs118204094
SNPdbers118204094
MSV3drs118204094
GWAS Ctlgrs118204094
Max Magnitude5
OMIM609806
Desc
Variant0004
Relatedalso
ClinVar
Risk rs118204094(T;T)
Alt rs118204094(T;T)
Reference rs118204094(C;C)
Significance Pathogenic
Disease Acute intermittent porphyria
Variation info
Gene HMBS
CLNDBN Acute intermittent porphyria
Reversed 0
HGVS NC_000011.9:g.118960701C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001510.2,