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rs118204106

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 4 Porphyria, acute intermittent
(T;T) 5 Porphyria, acute intermittent
ReferenceGRCh38 38.1/141
Chromosome11
Position119089084
GeneHMBS
is asnp
is mentioned by
dbSNPrs118204106
ebirs118204106
HLIrs118204106
Exacrs118204106
Varsomers118204106
Maprs118204106
PheGenIrs118204106
hapmaprs118204106
1000 genomesrs118204106
hgdprs118204106
ensemblrs118204106
gopubmedrs118204106
geneviewrs118204106
scholarrs118204106
googlers118204106
pharmgkbrs118204106
gwascentralrs118204106
openSNPrs118204106
23andMers118204106
23andMe allrs118204106
SNP Nexus

SNPshotrs118204106
SNPdbers118204106
MSV3drs118204106
GWAS Ctlgrs118204106
Max Magnitude5
OMIM609806
Desc
Variant0018
Relatedalso
ClinVar
Risk rs118204106(T;T)
Alt rs118204106(T;T)
Reference rs118204106(G;G)
Significance Pathogenic
Disease Acute intermittent porphyria
Variation info
Gene HMBS
CLNDBN Acute intermittent porphyria
Reversed 0
HGVS NC_000011.9:g.118959794G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001523.2,