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rs118204101

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
Position119091413
GeneHMBS
is asnp
is mentioned by
dbSNPrs118204101
ebirs118204101
HLIrs118204101
Exacrs118204101
Varsomers118204101
Maprs118204101
PheGenIrs118204101
hapmaprs118204101
1000 genomesrs118204101
hgdprs118204101
ensemblrs118204101
gopubmedrs118204101
geneviewrs118204101
scholarrs118204101
googlers118204101
pharmgkbrs118204101
gwascentralrs118204101
openSNPrs118204101
23andMers118204101
23andMe allrs118204101
SNP Nexus

SNPshotrs118204101
SNPdbers118204101
MSV3drs118204101
GWAS Ctlgrs118204101
Max Magnitude5
OMIM609806
Desc
Variant0013
Relatedalso
ClinVar
Risk rs118204101(T;T)
Alt rs118204101(T;T)
Reference rs118204101(C;C)
Significance Pathogenic
Disease Acute intermittent porphyria
Variation info
Gene HMBS
CLNDBN Acute intermittent porphyria
Reversed 0
HGVS NC_000011.9:g.118962123C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001521.2,