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rs118204117

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
Position119092958
GeneHMBS
is asnp
is mentioned by
dbSNPrs118204117
ebirs118204117
HLIrs118204117
Exacrs118204117
Varsomers118204117
Maprs118204117
PheGenIrs118204117
hapmaprs118204117
1000 genomesrs118204117
hgdprs118204117
ensemblrs118204117
gopubmedrs118204117
geneviewrs118204117
scholarrs118204117
googlers118204117
pharmgkbrs118204117
gwascentralrs118204117
openSNPrs118204117
23andMers118204117
23andMe allrs118204117
SNP Nexus

SNPshotrs118204117
SNPdbers118204117
MSV3drs118204117
GWAS Ctlgrs118204117
Max Magnitude5
OMIM609806
Desc
Variant0043
Relatedalso
ClinVar
Risk rs118204117(A;A)
Alt rs118204117(A;A)
Reference rs118204117(G;G)
Significance Pathogenic
Disease Acute intermittent porphyria
Variation info
Gene HMBS
CLNDBN Acute intermittent porphyria
Reversed 0
HGVS NC_000011.9:g.118963668G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001548.2,