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rs121912982

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912982(C;T)
Make rs121912982(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position113389521
GeneALAD
is asnp
is mentioned by
dbSNPrs121912982
ebirs121912982
HLIrs121912982
Exacrs121912982
Varsomers121912982
Maprs121912982
PheGenIrs121912982
hapmaprs121912982
1000 genomesrs121912982
hgdprs121912982
ensemblrs121912982
gopubmedrs121912982
geneviewrs121912982
scholarrs121912982
googlers121912982
pharmgkbrs121912982
gwascentralrs121912982
openSNPrs121912982
23andMers121912982
23andMe allrs121912982
SNP Nexus

SNPshotrs121912982
SNPdbers121912982
MSV3drs121912982
GWAS Ctlgrs121912982
Max Magnitude0
OMIM125270
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121912982(T;T)
Alt rs121912982(T;T)
Reference rs121912982(C;C)
Significance Pathogenic
Disease Porphobilinogen synthase deficiency
Variation info
Gene ALAD
CLNDBN Porphobilinogen synthase deficiency
Reversed 1
HGVS NC_000009.11:g.116151801G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018361.27,