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rs121912980

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912980(A;A)
Make rs121912980(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position113390798
GeneALAD
is asnp
is mentioned by
dbSNPrs121912980
ebirs121912980
HLIrs121912980
Exacrs121912980
Varsomers121912980
Maprs121912980
PheGenIrs121912980
hapmaprs121912980
1000 genomesrs121912980
hgdprs121912980
ensemblrs121912980
gopubmedrs121912980
geneviewrs121912980
scholarrs121912980
googlers121912980
pharmgkbrs121912980
gwascentralrs121912980
openSNPrs121912980
23andMers121912980
23andMe allrs121912980
SNP Nexus

SNPshotrs121912980
SNPdbers121912980
MSV3drs121912980
GWAS Ctlgrs121912980
Max Magnitude0
OMIM125270
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121912980(A;A)
Alt rs121912980(A;A)
Reference rs121912980(G;G)
Significance Pathogenic
Disease Porphobilinogen synthase deficiency
Variation info
Gene ALAD
CLNDBN Porphobilinogen synthase deficiency
Reversed 1
HGVS NC_000009.11:g.116153078C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018358.23,