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rs751930594

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs751930594(A;G)
Make rs751930594(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position130466723
GeneASS1
is asnp
is mentioned by
dbSNPrs751930594
dbSNP (classic)rs751930594
ClinGenrs751930594
ebirs751930594
HLIrs751930594
Exacrs751930594
Gnomadrs751930594
Varsomers751930594
LitVarrs751930594
Maprs751930594
PheGenIrs751930594
Biobankrs751930594
1000 genomesrs751930594
hgdprs751930594
ensemblrs751930594
geneviewrs751930594
scholarrs751930594
googlers751930594
pharmgkbrs751930594
gwascentralrs751930594
openSNPrs751930594
23andMers751930594
SNPshotrs751930594
SNPdbers751930594
MSV3drs751930594
GWAS Ctlgrs751930594
Max Magnitude0
ClinVar
Risk rs751930594(G;G) rs751930594(T;T)
Alt rs751930594(G;G) rs751930594(T;T)
Reference Rs751930594(A;A)
Significance Pathogenic
Disease Citrullinemia type I
Variation info
Gene ASS1
CLNDBN Citrullinemia type I
Reversed 0
HGVS NC_000009.11:g.133342110A>G
CLNSRC
CLNACC RCV000179704.1,