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rs200483989

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200483989(C;T)
Make rs200483989(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position44286074
GeneSLC3A1
is asnp
is mentioned by
dbSNPrs200483989
dbSNP (classic)rs200483989
ClinGenrs200483989
ebirs200483989
HLIrs200483989
Exacrs200483989
Gnomadrs200483989
Varsomers200483989
LitVarrs200483989
Maprs200483989
PheGenIrs200483989
Biobankrs200483989
1000 genomesrs200483989
hgdprs200483989
ensemblrs200483989
geneviewrs200483989
scholarrs200483989
googlers200483989
pharmgkbrs200483989
gwascentralrs200483989
openSNPrs200483989
23andMers200483989
23andMe allrs200483989
SNPshotrs200483989
SNPdbers200483989
MSV3drs200483989
GWAS Ctlgrs200483989
Max Magnitude0
ClinVar
Risk rs200483989(T;T)
Alt rs200483989(T;T)
Reference Rs200483989(C;C)
Significance Pathogenic
Disease Cystinuria
Variation info
Gene SLC3A1
CLNDBN Cystinuria
Reversed 0
HGVS NC_000002.11:g.44513213C>T
CLNSRC Illumina
CLNACC RCV000332132.1,