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rs118204115

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
Position119092518
GeneHMBS
is asnp
is mentioned by
dbSNPrs118204115
ebirs118204115
HLIrs118204115
Exacrs118204115
Varsomers118204115
Maprs118204115
PheGenIrs118204115
hapmaprs118204115
1000 genomesrs118204115
hgdprs118204115
ensemblrs118204115
gopubmedrs118204115
geneviewrs118204115
scholarrs118204115
googlers118204115
pharmgkbrs118204115
gwascentralrs118204115
openSNPrs118204115
23andMers118204115
23andMe allrs118204115
SNP Nexus

SNPshotrs118204115
SNPdbers118204115
MSV3drs118204115
GWAS Ctlgrs118204115
Max Magnitude5
OMIM609806
Desc
Variant0034
Relatedalso
ClinVar
Risk rs118204115(A;A)
Alt rs118204115(A;A)
Reference rs118204115(C;C)
Significance Pathogenic
Disease Acute intermittent porphyria
Variation info
Gene HMBS
CLNDBN Acute intermittent porphyria
Reversed 0
HGVS NC_000011.9:g.118963228C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001539.2,