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rs1057516528

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516528(A;C)
Make rs1057516528(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position73641926
GeneSLC17A5
is asnp
is mentioned by
dbSNPrs1057516528
dbSNP (old)rs1057516528
ClinGenrs1057516528
ebirs1057516528
HLIrs1057516528
Exacrs1057516528
Gnomadrs1057516528
Varsomers1057516528
Maprs1057516528
PheGenIrs1057516528
Biobankrs1057516528
1000 genomesrs1057516528
hgdprs1057516528
ensemblrs1057516528
gopubmedrs1057516528
geneviewrs1057516528
scholarrs1057516528
googlers1057516528
pharmgkbrs1057516528
gwascentralrs1057516528
openSNPrs1057516528
23andMers1057516528
23andMe allrs1057516528
SNPshotrs1057516528
SNPdbers1057516528
MSV3drs1057516528
GWAS Ctlgrs1057516528
Max Magnitude0
ClinVar
Risk rs1057516528(C;C)
Alt rs1057516528(C;C)
Reference Rs1057516528(A;A)
Significance Probable-Pathogenic
Disease Salla disease
Variation info
Gene SLC17A5
CLNDBN Salla disease
Reversed 1
HGVS NC_000006.11:g.74351649T>G
CLNSRC
CLNACC RCV000412121.1,