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rs118204119

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 4 Porphyria, acute intermittent
(C;T) 4 Carrier for porphyria, acute intermittent
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome11
Position119089248
GeneHMBS
is asnp
is mentioned by
dbSNPrs118204119
ebirs118204119
HLIrs118204119
Exacrs118204119
Varsomers118204119
Maprs118204119
PheGenIrs118204119
hapmaprs118204119
1000 genomesrs118204119
hgdprs118204119
ensemblrs118204119
gopubmedrs118204119
geneviewrs118204119
scholarrs118204119
googlers118204119
pharmgkbrs118204119
gwascentralrs118204119
openSNPrs118204119
23andMers118204119
23andMe allrs118204119
SNP Nexus

SNPshotrs118204119
SNPdbers118204119
MSV3drs118204119
GWAS Ctlgrs118204119
Max Magnitude4
OMIM609806
Desc
Variant0045
Relatedalso
ClinVar
Risk rs118204119(C;C)
Alt rs118204119(C;C)
Reference rs118204119(T;T)
Significance Pathogenic
Disease Acute intermittent porphyria
Variation info
Gene HMBS
CLNDBN Acute intermittent porphyria
Reversed 0
HGVS NC_000011.9:g.118959958T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001550.2,