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rs118204100

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 5 Porphyria, acute intermittent
(A;G) 4 Porphyria, acute intermittent
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome11
Position119091507
GeneHMBS
is asnp
is mentioned by
dbSNPrs118204100
ebirs118204100
HLIrs118204100
Exacrs118204100
Varsomers118204100
Maprs118204100
PheGenIrs118204100
hapmaprs118204100
1000 genomesrs118204100
hgdprs118204100
ensemblrs118204100
gopubmedrs118204100
geneviewrs118204100
scholarrs118204100
googlers118204100
pharmgkbrs118204100
gwascentralrs118204100
openSNPrs118204100
23andMers118204100
23andMe allrs118204100
SNP Nexus

SNPshotrs118204100
SNPdbers118204100
MSV3drs118204100
GWAS Ctlgrs118204100
Max Magnitude5
OMIM609806
Desc
Variant0012
Relatedalso
ClinVar
Risk rs118204100(A;A)
Alt rs118204100(A;A)
Reference rs118204100(G;G)
Significance Pathogenic
Disease Acute intermittent porphyria
Variation info
Gene HMBS
CLNDBN Acute intermittent porphyria
Reversed 0
HGVS NC_000011.9:g.118962217G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001518.2,