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rs575001023

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs575001023(A;A)
Make rs575001023(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome9
Position130458483
GeneASS1
is asnp
is mentioned by
dbSNPrs575001023
dbSNP (classic)rs575001023
ClinGenrs575001023
ebirs575001023
HLIrs575001023
Exacrs575001023
Gnomadrs575001023
Varsomers575001023
LitVarrs575001023
Maprs575001023
PheGenIrs575001023
Biobankrs575001023
1000 genomesrs575001023
hgdprs575001023
ensemblrs575001023
geneviewrs575001023
scholarrs575001023
googlers575001023
pharmgkbrs575001023
gwascentralrs575001023
openSNPrs575001023
23andMers575001023
SNPshotrs575001023
SNPdbers575001023
MSV3drs575001023
GWAS Ctlgrs575001023
Max Magnitude0
ClinVar
Risk rs575001023(A;A)
Alt rs575001023(A;A)
Reference Rs575001023(G;G)
Significance Pathogenic
Disease Citrullinemia type I
Variation info
Gene ASS1
CLNDBN Citrullinemia type I
Reversed 0
HGVS NC_000009.11:g.133333870G>A
CLNSRC
CLNACC RCV000256238.1,