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rs118204095

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
Position119091414
GeneHMBS
is asnp
is mentioned by
dbSNPrs118204095
ebirs118204095
HLIrs118204095
Exacrs118204095
Varsomers118204095
Maprs118204095
PheGenIrs118204095
hapmaprs118204095
1000 genomesrs118204095
hgdprs118204095
ensemblrs118204095
gopubmedrs118204095
geneviewrs118204095
scholarrs118204095
googlers118204095
pharmgkbrs118204095
gwascentralrs118204095
openSNPrs118204095
23andMers118204095
23andMe allrs118204095
SNP Nexus

SNPshotrs118204095
SNPdbers118204095
MSV3drs118204095
GWAS Ctlgrs118204095
Max Magnitude5
OMIM609806
Desc
Variant0005
Relatedalso
OMIM609806
Desc
Variant0014
Relatedalso
ClinVar
Risk rs118204095(A,T;A,T)
Alt rs118204095(A,T;A,T)
Reference rs118204095(G;G)
Significance Other
Disease Acute intermittent porphyria
Variation info
Gene HMBS
CLNDBN Acute intermittent porphyria
Reversed 0
HGVS NC_000011.9:g.118962124G>A; NC_000011.9:g.118962124G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001511.3, RCV000001522.2,