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rs118204097

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
Position119090230
GeneHMBS
is asnp
is mentioned by
dbSNPrs118204097
ebirs118204097
HLIrs118204097
Exacrs118204097
Varsomers118204097
Maprs118204097
PheGenIrs118204097
hapmaprs118204097
1000 genomesrs118204097
hgdprs118204097
ensemblrs118204097
gopubmedrs118204097
geneviewrs118204097
scholarrs118204097
googlers118204097
pharmgkbrs118204097
gwascentralrs118204097
openSNPrs118204097
23andMers118204097
23andMe allrs118204097
SNP Nexus

SNPshotrs118204097
SNPdbers118204097
MSV3drs118204097
GWAS Ctlgrs118204097
Max Magnitude5
OMIM609806
Desc
Variant0007
Relatedalso
ClinVar
Risk rs118204097(T;T)
Alt rs118204097(T;T)
Reference rs118204097(C;C)
Significance Pathogenic
Disease Acute intermittent porphyria
Variation info
Gene HMBS
CLNDBN Acute intermittent porphyria
Reversed 0
HGVS NC_000011.9:g.118960940C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001513.2,