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rs1057519470

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519470(-;-)
Make rs1057519470(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position44320331
GenePREPL, SLC3A1
is asnp
is mentioned by
dbSNPrs1057519470
dbSNP (old)rs1057519470
ClinGenrs1057519470
ebirs1057519470
HLIrs1057519470
Exacrs1057519470
Gnomadrs1057519470
Varsomers1057519470
Maprs1057519470
PheGenIrs1057519470
Biobankrs1057519470
1000 genomesrs1057519470
hgdprs1057519470
ensemblrs1057519470
gopubmedrs1057519470
geneviewrs1057519470
scholarrs1057519470
googlers1057519470
pharmgkbrs1057519470
gwascentralrs1057519470
openSNPrs1057519470
23andMers1057519470
23andMe allrs1057519470
SNPshotrs1057519470
SNPdbers1057519470
MSV3drs1057519470
GWAS Ctlgrs1057519470
Max Magnitude0
ClinVar
Risk rs1057519470(-;-)
Alt rs1057519470(-;-)
Reference Rs1057519470(A;A)
Significance Probable-Pathogenic
Disease Cystinuria
Variation info
Gene PREPL SLC3A1
CLNDBN Cystinuria
Reversed 0
HGVS NC_000002.11:g.44547470delA
CLNSRC
CLNACC RCV000416445.1,