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rs118204120

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
Position119090212
GeneHMBS
is asnp
is mentioned by
dbSNPrs118204120
ebirs118204120
HLIrs118204120
Exacrs118204120
Varsomers118204120
Maprs118204120
PheGenIrs118204120
hapmaprs118204120
1000 genomesrs118204120
hgdprs118204120
ensemblrs118204120
gopubmedrs118204120
geneviewrs118204120
scholarrs118204120
googlers118204120
pharmgkbrs118204120
gwascentralrs118204120
openSNPrs118204120
23andMers118204120
23andMe allrs118204120
SNP Nexus

SNPshotrs118204120
SNPdbers118204120
MSV3drs118204120
GWAS Ctlgrs118204120
Max Magnitude5
OMIM609806
Desc
Variant0046
Relatedalso
ClinVar
Risk rs118204120(T;T)
Alt rs118204120(T;T)
Reference rs118204120(C;C)
Significance Pathogenic
Disease Acute intermittent porphyria
Variation info
Gene HMBS
CLNDBN Acute intermittent porphyria
Reversed 0
HGVS NC_000011.9:g.118960922C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001551.2,