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rs398123130

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398123130(A;G)
Make rs398123130(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position130470832
GeneASS1
is asnp
is mentioned by
dbSNPrs398123130
dbSNP (classic)rs398123130
ClinGenrs398123130
ebirs398123130
HLIrs398123130
Exacrs398123130
Gnomadrs398123130
Varsomers398123130
LitVarrs398123130
Maprs398123130
PheGenIrs398123130
Biobankrs398123130
1000 genomesrs398123130
hgdprs398123130
ensemblrs398123130
geneviewrs398123130
scholarrs398123130
googlers398123130
pharmgkbrs398123130
gwascentralrs398123130
openSNPrs398123130
23andMers398123130
SNPshotrs398123130
SNPdbers398123130
MSV3drs398123130
GWAS Ctlgrs398123130
Max Magnitude0
ClinVar
Risk rs398123130(G;G)
Alt rs398123130(G;G)
Reference Rs398123130(A;A)
Significance Pathogenic
Disease Citrullinemia type I
Variation info
Gene ASS1
CLNDBN Citrullinemia type I
Reversed 0
HGVS NC_000009.11:g.133346219A>G
CLNSRC ClinVar
CLNACC RCV000078020.4,