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rs118204109

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
Position119091515
GeneHMBS
is asnp
is mentioned by
dbSNPrs118204109
ebirs118204109
HLIrs118204109
Exacrs118204109
Varsomers118204109
Maprs118204109
PheGenIrs118204109
hapmaprs118204109
1000 genomesrs118204109
hgdprs118204109
ensemblrs118204109
gopubmedrs118204109
geneviewrs118204109
scholarrs118204109
googlers118204109
pharmgkbrs118204109
gwascentralrs118204109
openSNPrs118204109
23andMers118204109
23andMe allrs118204109
SNP Nexus

SNPshotrs118204109
SNPdbers118204109
MSV3drs118204109
GWAS Ctlgrs118204109
Max Magnitude5
OMIM609806
Desc
Variant0026
Relatedalso
ClinVar
Risk rs118204109(T;T)
Alt rs118204109(T;T)
Reference rs118204109(C;C)
Significance Pathogenic
Disease Acute intermittent porphyria
Variation info
Gene HMBS
CLNDBN Acute intermittent porphyria
Reversed 0
HGVS NC_000011.9:g.118962225C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001527.2,