Rs118204108

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Orientationplus
Geno Mag Summary
(G;G) 5 Porphyria, acute intermittent
(G;T) 4 Porphyria, acute intermittent
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome11
Position119091444
GeneHMBS
is asnp
is mentioned by
dbSNPrs118204108
Exacrs118204108
PheGenIrs118204108
nextbiors118204108
hapmaprs118204108
1000 genomesrs118204108
hgdprs118204108
ensemblrs118204108
gopubmedrs118204108
geneviewrs118204108
scholarrs118204108
googlers118204108
pharmgkbrs118204108
gwascentralrs118204108
openSNPrs118204108
23andMers118204108
23andMe allrs118204108
SNP Nexus

SNPshotrs118204108
SNPdbers118204108
MSV3drs118204108
Max Magnitude5
OMIM609806
Desc
Variant0025
Relatedalso
ClinVar
Risk rs118204108(G;G)
Alt rs118204108(G;G)
Reference rs118204108(T;T)
Significance Pathogenic
Disease Acute intermittent porphyria
Variation info
Gene HMBS
CLNDBN Acute intermittent porphyria
Reversed 0
HGVS NC_000011.9:g.118962154T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001531.1,