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rs118204099

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 5 Porphyria, acute intermittent
(G;T) 4 Porphyria, acute intermittent
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome11
Position119092486
GeneHMBS
is asnp
is mentioned by
dbSNPrs118204099
ebirs118204099
HLIrs118204099
Exacrs118204099
Varsomers118204099
Maprs118204099
PheGenIrs118204099
hapmaprs118204099
1000 genomesrs118204099
hgdprs118204099
ensemblrs118204099
gopubmedrs118204099
geneviewrs118204099
scholarrs118204099
googlers118204099
pharmgkbrs118204099
gwascentralrs118204099
openSNPrs118204099
23andMers118204099
23andMe allrs118204099
SNP Nexus

SNPshotrs118204099
SNPdbers118204099
MSV3drs118204099
GWAS Ctlgrs118204099
Max Magnitude5
OMIM609806
Desc
Variant0009
Relatedalso
ClinVar
Risk rs118204099(G;G)
Alt rs118204099(G;G)
Reference rs118204099(T;T)
Significance Pathogenic
Disease Acute intermittent porphyria
Variation info
Gene HMBS
CLNDBN Acute intermittent porphyria
Reversed 0
HGVS NC_000011.9:g.118963196T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001515.2,