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rs1057516419

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516419(-;-)
Make rs1057516419(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position73641793
GeneSLC17A5
is asnp
is mentioned by
dbSNPrs1057516419
dbSNP (classic)rs1057516419
ClinGenrs1057516419
ebirs1057516419
HLIrs1057516419
Exacrs1057516419
Gnomadrs1057516419
Varsomers1057516419
LitVarrs1057516419
Maprs1057516419
PheGenIrs1057516419
Biobankrs1057516419
1000 genomesrs1057516419
hgdprs1057516419
ensemblrs1057516419
geneviewrs1057516419
scholarrs1057516419
googlers1057516419
pharmgkbrs1057516419
gwascentralrs1057516419
openSNPrs1057516419
23andMers1057516419
23andMe allrs1057516419
SNPshotrs1057516419
SNPdbers1057516419
MSV3drs1057516419
GWAS Ctlgrs1057516419
Max Magnitude0
ClinVar
Risk rs1057516419(-;-)
Alt rs1057516419(-;-)
Reference Rs1057516419(T;T)
Significance Probable-Pathogenic
Disease Salla disease
Variation info
Gene SLC17A5
CLNDBN Salla disease
Reversed 1
HGVS NC_000006.11:g.74351516delA
CLNSRC
CLNACC RCV000410726.1,