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rs1057516910

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516910(A;A)
Make rs1057516910(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position73615410
GeneSLC17A5
is asnp
is mentioned by
dbSNPrs1057516910
dbSNP (classic)rs1057516910
ClinGenrs1057516910
ebirs1057516910
HLIrs1057516910
Exacrs1057516910
Gnomadrs1057516910
Varsomers1057516910
LitVarrs1057516910
Maprs1057516910
PheGenIrs1057516910
Biobankrs1057516910
1000 genomesrs1057516910
hgdprs1057516910
ensemblrs1057516910
geneviewrs1057516910
scholarrs1057516910
googlers1057516910
pharmgkbrs1057516910
gwascentralrs1057516910
openSNPrs1057516910
23andMers1057516910
SNPshotrs1057516910
SNPdbers1057516910
MSV3drs1057516910
GWAS Ctlgrs1057516910
Max Magnitude0
ClinVar
Risk rs1057516910(A;A)
Alt rs1057516910(A;A)
Reference Rs1057516910(G;G)
Significance Probable-Pathogenic
Disease Salla disease
Variation info
Gene SLC17A5
CLNDBN Salla disease
Reversed 1
HGVS NC_000006.11:g.74325133C>T
CLNSRC
CLNACC RCV000410279.1,