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rs118204118

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 normal
(A;G) 4 Porphyria, acute intermittent
(G;G) 4 Porphyria, acute intermittent
ReferenceGRCh38 38.1/141
Chromosome11
Position119085034
GeneHMBS
is asnp
is mentioned by
dbSNPrs118204118
ebirs118204118
HLIrs118204118
Exacrs118204118
Varsomers118204118
Maprs118204118
PheGenIrs118204118
hapmaprs118204118
1000 genomesrs118204118
hgdprs118204118
ensemblrs118204118
gopubmedrs118204118
geneviewrs118204118
scholarrs118204118
googlers118204118
pharmgkbrs118204118
gwascentralrs118204118
openSNPrs118204118
23andMers118204118
23andMe allrs118204118
SNP Nexus

SNPshotrs118204118
SNPdbers118204118
MSV3drs118204118
GWAS Ctlgrs118204118
Max Magnitude4
OMIM609806
Desc
Variant0044
Relatedalso
ClinVar
Risk rs118204118(G;G)
Alt rs118204118(G;G)
Reference rs118204118(A;A)
Significance Pathogenic
Disease Porphyria
Variation info
Gene HMBS
CLNDBN Porphyria, acute intermittent, nonerythroid variant
Reversed 0
HGVS NC_000011.9:g.118955744A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001549.2,