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rs1057516505

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs1057516505(-;-)
Make rs1057516505(-;CA)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position73644482
GeneSLC17A5
is asnp
is mentioned by
dbSNPrs1057516505
dbSNP (classic)rs1057516505
ClinGenrs1057516505
ebirs1057516505
HLIrs1057516505
Exacrs1057516505
Gnomadrs1057516505
Varsomers1057516505
LitVarrs1057516505
Maprs1057516505
PheGenIrs1057516505
Biobankrs1057516505
1000 genomesrs1057516505
hgdprs1057516505
ensemblrs1057516505
geneviewrs1057516505
scholarrs1057516505
googlers1057516505
pharmgkbrs1057516505
gwascentralrs1057516505
openSNPrs1057516505
23andMers1057516505
SNPshotrs1057516505
SNPdbers1057516505
MSV3drs1057516505
GWAS Ctlgrs1057516505
Max Magnitude0
ClinVar
Risk rs1057516505(-;-)
Alt rs1057516505(-;-)
Reference Rs1057516505(CA;CA)
Significance Probable-Pathogenic
Disease Salla disease
Variation info
Gene SLC17A5
CLNDBN Salla disease
Reversed 1
HGVS NC_000006.11:g.74354205_74354206delTG
CLNSRC
CLNACC RCV000410897.1,