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rs121912981

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912981(A;A)
Make rs121912981(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position113389085
GeneALAD
is asnp
is mentioned by
dbSNPrs121912981
ebirs121912981
HLIrs121912981
Exacrs121912981
Varsomers121912981
Maprs121912981
PheGenIrs121912981
hapmaprs121912981
1000 genomesrs121912981
hgdprs121912981
ensemblrs121912981
gopubmedrs121912981
geneviewrs121912981
scholarrs121912981
googlers121912981
pharmgkbrs121912981
gwascentralrs121912981
openSNPrs121912981
23andMers121912981
23andMe allrs121912981
SNP Nexus

SNPshotrs121912981
SNPdbers121912981
MSV3drs121912981
GWAS Ctlgrs121912981
Max Magnitude0
OMIM125270
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121912981(A;A)
Alt rs121912981(A;A)
Reference rs121912981(G;G)
Significance Pathogenic
Disease Porphobilinogen synthase deficiency
Variation info
Gene ALAD
CLNDBN Porphobilinogen synthase deficiency
Reversed 1
HGVS NC_000009.11:g.116151365C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018359.24,