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rs118204103

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
Position119088298
GeneHMBS
is asnp
is mentioned by
dbSNPrs118204103
ebirs118204103
HLIrs118204103
Exacrs118204103
Varsomers118204103
Maprs118204103
PheGenIrs118204103
hapmaprs118204103
1000 genomesrs118204103
hgdprs118204103
ensemblrs118204103
gopubmedrs118204103
geneviewrs118204103
scholarrs118204103
googlers118204103
pharmgkbrs118204103
gwascentralrs118204103
openSNPrs118204103
23andMers118204103
23andMe allrs118204103
SNP Nexus

SNPshotrs118204103
SNPdbers118204103
MSV3drs118204103
GWAS Ctlgrs118204103
Max Magnitude5
OMIM609806
Desc
Variant0015
Relatedalso
ClinVar
Risk rs118204103(A;A)
Alt rs118204103(A;A)
Reference rs118204103(G;G)
Significance Pathogenic
Disease Acute intermittent porphyria
Variation info
Gene HMBS
CLNDBN Acute intermittent porphyria
Reversed 0
HGVS NC_000011.9:g.118959008G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001508.3,