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rs118204114

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
Position119092507
GeneHMBS
is asnp
is mentioned by
dbSNPrs118204114
ebirs118204114
HLIrs118204114
Exacrs118204114
Varsomers118204114
Maprs118204114
PheGenIrs118204114
hapmaprs118204114
1000 genomesrs118204114
hgdprs118204114
ensemblrs118204114
gopubmedrs118204114
geneviewrs118204114
scholarrs118204114
googlers118204114
pharmgkbrs118204114
gwascentralrs118204114
openSNPrs118204114
23andMers118204114
23andMe allrs118204114
SNP Nexus

SNPshotrs118204114
SNPdbers118204114
MSV3drs118204114
GWAS Ctlgrs118204114
Max Magnitude5
OMIM609806
Desc
Variant0033
Relatedalso
ClinVar
Risk rs118204114(T;T)
Alt rs118204114(T;T)
Reference rs118204114(C;C)
Significance Pathogenic
Disease Acute intermittent porphyria
Variation info
Gene HMBS
CLNDBN Acute intermittent porphyria
Reversed 0
HGVS NC_000011.9:g.118963217C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001538.2,