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rs118204104

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
Position119088638
GeneHMBS
is asnp
is mentioned by
dbSNPrs118204104
ebirs118204104
HLIrs118204104
Exacrs118204104
Varsomers118204104
Maprs118204104
PheGenIrs118204104
hapmaprs118204104
1000 genomesrs118204104
hgdprs118204104
ensemblrs118204104
gopubmedrs118204104
geneviewrs118204104
scholarrs118204104
googlers118204104
pharmgkbrs118204104
gwascentralrs118204104
openSNPrs118204104
23andMers118204104
23andMe allrs118204104
SNP Nexus

SNPshotrs118204104
SNPdbers118204104
MSV3drs118204104
GWAS Ctlgrs118204104
Max Magnitude5
OMIM609806
Desc
Variant0016
Relatedalso
ClinVar
Risk rs118204104(A;A)
Alt rs118204104(A;A)
Reference rs118204104(G;G)
Significance Pathogenic
Disease Acute intermittent porphyria
Variation info
Gene HMBS
CLNDBN Acute intermittent porphyria
Reversed 0
HGVS NC_000011.9:g.118959348G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001519.3,