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rs1057516257

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516257(A;A)
Make rs1057516257(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position73641832
GeneSLC17A5
is asnp
is mentioned by
dbSNPrs1057516257
dbSNP (classic)rs1057516257
ClinGenrs1057516257
ebirs1057516257
HLIrs1057516257
Exacrs1057516257
Gnomadrs1057516257
Varsomers1057516257
LitVarrs1057516257
Maprs1057516257
PheGenIrs1057516257
Biobankrs1057516257
1000 genomesrs1057516257
hgdprs1057516257
ensemblrs1057516257
geneviewrs1057516257
scholarrs1057516257
googlers1057516257
pharmgkbrs1057516257
gwascentralrs1057516257
openSNPrs1057516257
23andMers1057516257
23andMe allrs1057516257
SNPshotrs1057516257
SNPdbers1057516257
MSV3drs1057516257
GWAS Ctlgrs1057516257
Max Magnitude0
ClinVar
Risk rs1057516257(A;A)
Alt rs1057516257(A;A)
Reference Rs1057516257(T;T)
Significance Probable-Pathogenic
Disease Salla disease
Variation info
Gene SLC17A5
CLNDBN Salla disease
Reversed 1
HGVS NC_000006.11:g.74351555A>T
CLNSRC
CLNACC RCV000409833.1,