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rs1057516544

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516544(-;-)
Make rs1057516544(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position130464113
GeneASS1
is asnp
is mentioned by
dbSNPrs1057516544
dbSNP (old)rs1057516544
ClinGenrs1057516544
ebirs1057516544
HLIrs1057516544
Exacrs1057516544
Gnomadrs1057516544
Varsomers1057516544
Maprs1057516544
PheGenIrs1057516544
Biobankrs1057516544
1000 genomesrs1057516544
hgdprs1057516544
ensemblrs1057516544
gopubmedrs1057516544
geneviewrs1057516544
scholarrs1057516544
googlers1057516544
pharmgkbrs1057516544
gwascentralrs1057516544
openSNPrs1057516544
23andMers1057516544
23andMe allrs1057516544
SNPshotrs1057516544
SNPdbers1057516544
MSV3drs1057516544
GWAS Ctlgrs1057516544
Max Magnitude0
ClinVar
Risk rs1057516544(-;-)
Alt rs1057516544(-;-)
Reference Rs1057516544(G;G)
Significance Probable-Pathogenic
Disease Citrullinemia type I
Variation info
Gene ASS1
CLNDBN Citrullinemia type I
Reversed 0
HGVS NC_000009.11:g.133339500delG
CLNSRC
CLNACC RCV000411991.1,