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rs1057516549

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516549(-;-)
Make rs1057516549(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position73644494
GeneSLC17A5
is asnp
is mentioned by
dbSNPrs1057516549
dbSNP (old)rs1057516549
ClinGenrs1057516549
ebirs1057516549
HLIrs1057516549
Exacrs1057516549
Gnomadrs1057516549
Varsomers1057516549
Maprs1057516549
PheGenIrs1057516549
Biobankrs1057516549
1000 genomesrs1057516549
hgdprs1057516549
ensemblrs1057516549
gopubmedrs1057516549
geneviewrs1057516549
scholarrs1057516549
googlers1057516549
pharmgkbrs1057516549
gwascentralrs1057516549
openSNPrs1057516549
23andMers1057516549
23andMe allrs1057516549
SNPshotrs1057516549
SNPdbers1057516549
MSV3drs1057516549
GWAS Ctlgrs1057516549
Max Magnitude0
ClinVar
Risk rs1057516549(-;-)
Alt rs1057516549(-;-)
Reference Rs1057516549(A;A)
Significance Probable-Pathogenic
Disease Salla disease
Variation info
Gene SLC17A5
CLNDBN Salla disease
Reversed 1
HGVS NC_000006.11:g.74354217delT
CLNSRC
CLNACC RCV000412073.1,