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rs1057517119

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517119(-;-)
Make rs1057517119(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position73610538
GeneSLC17A5
is asnp
is mentioned by
dbSNPrs1057517119
dbSNP (old)rs1057517119
ClinGenrs1057517119
ebirs1057517119
HLIrs1057517119
Exacrs1057517119
Gnomadrs1057517119
Varsomers1057517119
Maprs1057517119
PheGenIrs1057517119
Biobankrs1057517119
1000 genomesrs1057517119
hgdprs1057517119
ensemblrs1057517119
gopubmedrs1057517119
geneviewrs1057517119
scholarrs1057517119
googlers1057517119
pharmgkbrs1057517119
gwascentralrs1057517119
openSNPrs1057517119
23andMers1057517119
23andMe allrs1057517119
SNPshotrs1057517119
SNPdbers1057517119
MSV3drs1057517119
GWAS Ctlgrs1057517119
Max Magnitude0
ClinVar
Risk rs1057517119(-;-)
Alt rs1057517119(-;-)
Reference Rs1057517119(G;G)
Significance Probable-Pathogenic
Disease Salla disease
Variation info
Gene SLC17A5
CLNDBN Salla disease
Reversed 1
HGVS NC_000006.11:g.74320261delC
CLNSRC
CLNACC RCV000409207.1,