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rs118204111

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 5 Porphyria, acute intermittent
(C;T) 4 Porphyria, acute intermittent
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome11
Position119092491
GeneHMBS
is asnp
is mentioned by
dbSNPrs118204111
ebirs118204111
HLIrs118204111
Exacrs118204111
Varsomers118204111
Maprs118204111
PheGenIrs118204111
hapmaprs118204111
1000 genomesrs118204111
hgdprs118204111
ensemblrs118204111
gopubmedrs118204111
geneviewrs118204111
scholarrs118204111
googlers118204111
pharmgkbrs118204111
gwascentralrs118204111
openSNPrs118204111
23andMers118204111
23andMe allrs118204111
SNP Nexus

SNPshotrs118204111
SNPdbers118204111
MSV3drs118204111
GWAS Ctlgrs118204111
Max Magnitude5
OMIM609806
Desc
Variant0029
Relatedalso
ClinVar
Risk rs118204111(C;C)
Alt rs118204111(C;C)
Reference rs118204111(T;T)
Significance Pathogenic
Disease Acute intermittent porphyria
Variation info
Gene HMBS
CLNDBN Acute intermittent porphyria
Reversed 0
HGVS NC_000011.9:g.118963201T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001534.3,