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rs1057517269

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517269(-;-)
Make rs1057517269(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position73644483
GeneSLC17A5
is asnp
is mentioned by
dbSNPrs1057517269
dbSNP (old)rs1057517269
ClinGenrs1057517269
ebirs1057517269
HLIrs1057517269
Exacrs1057517269
Gnomadrs1057517269
Varsomers1057517269
Maprs1057517269
PheGenIrs1057517269
Biobankrs1057517269
1000 genomesrs1057517269
hgdprs1057517269
ensemblrs1057517269
gopubmedrs1057517269
geneviewrs1057517269
scholarrs1057517269
googlers1057517269
pharmgkbrs1057517269
gwascentralrs1057517269
openSNPrs1057517269
23andMers1057517269
23andMe allrs1057517269
SNPshotrs1057517269
SNPdbers1057517269
MSV3drs1057517269
GWAS Ctlgrs1057517269
Max Magnitude0
ClinVar
Risk rs1057517269(-;-)
Alt rs1057517269(-;-)
Reference Rs1057517269(C;C)
Significance Probable-Pathogenic
Disease Salla disease
Variation info
Gene SLC17A5
CLNDBN Salla disease
Reversed 1
HGVS NC_000006.11:g.74354206delG
CLNSRC
CLNACC RCV000409761.1,