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rs121912983

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912983(A;A)
Make rs121912983(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position113389088
GeneALAD
is asnp
is mentioned by
dbSNPrs121912983
ebirs121912983
HLIrs121912983
Exacrs121912983
Varsomers121912983
Maprs121912983
PheGenIrs121912983
hapmaprs121912983
1000 genomesrs121912983
hgdprs121912983
ensemblrs121912983
gopubmedrs121912983
geneviewrs121912983
scholarrs121912983
googlers121912983
pharmgkbrs121912983
gwascentralrs121912983
openSNPrs121912983
23andMers121912983
23andMe allrs121912983
SNP Nexus

SNPshotrs121912983
SNPdbers121912983
MSV3drs121912983
GWAS Ctlgrs121912983
Max Magnitude0
OMIM125270
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121912983(A;A)
Alt rs121912983(A;A)
Reference rs121912983(G;G)
Significance Pathogenic
Disease Porphobilinogen synthase deficiency
Variation info
Gene ALAD
CLNDBN Porphobilinogen synthase deficiency
Reversed 1
HGVS NC_000009.11:g.116151368C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018362.28,