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rs121912984

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912984(C;G)
Make rs121912984(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position113393524
GeneALAD
is asnp
is mentioned by
dbSNPrs121912984
dbSNP (classic)rs121912984
ClinGenrs121912984
ebirs121912984
HLIrs121912984
Exacrs121912984
Gnomadrs121912984
Varsomers121912984
LitVarrs121912984
Maprs121912984
PheGenIrs121912984
Biobankrs121912984
1000 genomesrs121912984
hgdprs121912984
ensemblrs121912984
geneviewrs121912984
scholarrs121912984
googlers121912984
pharmgkbrs121912984
gwascentralrs121912984
openSNPrs121912984
23andMers121912984
SNPshotrs121912984
SNPdbers121912984
MSV3drs121912984
GWAS Ctlgrs121912984
Max Magnitude0
OMIM125270
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121912984(G;G) rs121912984(T;T)
Alt rs121912984(G;G) rs121912984(T;T)
Reference Rs121912984(C;C)
Significance Pathogenic
Disease Porphyria not provided
Variation info
Gene ALAD
CLNDBN Porphyria, acute hepatic, digenic not provided
Reversed 1
HGVS NC_000009.11:g.116155804G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000018363.23, RCV000413492.1,