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rs982830431

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position130479801
GeneASS1
is asnp
is mentioned by
dbSNPrs982830431
dbSNP (classic)rs982830431
ClinGenrs982830431
ebirs982830431
HLIrs982830431
Exacrs982830431
Gnomadrs982830431
Varsomers982830431
LitVarrs982830431
Maprs982830431
PheGenIrs982830431
Biobankrs982830431
1000 genomesrs982830431
hgdprs982830431
ensemblrs982830431
geneviewrs982830431
scholarrs982830431
googlers982830431
pharmgkbrs982830431
gwascentralrs982830431
openSNPrs982830431
23andMers982830431
SNPshotrs982830431
SNPdbers982830431
MSV3drs982830431
GWAS Ctlgrs982830431
Max Magnitude0
ClinVar
Risk rs982830431(A;A)
Alt rs982830431(A;A)
Reference Rs982830431(G;G)
Significance Probable-Pathogenic
Disease Citrullinemia type I
Variation info
Gene
CLNDBN Citrullinemia type I
Reversed 0
HGVS NC_000009.11:g.133355188G>A
CLNSRC
CLNACC RCV000410118.1,