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rs118204105

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 5 Porphyria, acute intermittent
(A;C) 4 Porphyria, acute intermittent
(C;C) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome11
Position119088647
GeneHMBS
is asnp
is mentioned by
dbSNPrs118204105
ebirs118204105
HLIrs118204105
Exacrs118204105
Varsomers118204105
Maprs118204105
PheGenIrs118204105
hapmaprs118204105
1000 genomesrs118204105
hgdprs118204105
ensemblrs118204105
gopubmedrs118204105
geneviewrs118204105
scholarrs118204105
googlers118204105
pharmgkbrs118204105
gwascentralrs118204105
openSNPrs118204105
23andMers118204105
23andMe allrs118204105
SNP Nexus

SNPshotrs118204105
SNPdbers118204105
MSV3drs118204105
GWAS Ctlgrs118204105
Max Magnitude5
OMIM609806
Desc
Variant0017
Relatedalso
ClinVar
Risk rs118204105(A;A)
Alt rs118204105(A;A)
Reference rs118204105(C;C)
Significance Pathogenic
Disease Acute intermittent porphyria
Variation info
Gene HMBS
CLNDBN Acute intermittent porphyria
Reversed 0
HGVS NC_000011.9:g.118959357C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001520.2,