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rs1057517111

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517111(-;-)
Make rs1057517111(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position73610532
GeneSLC17A5
is asnp
is mentioned by
dbSNPrs1057517111
dbSNP (classic)rs1057517111
ClinGenrs1057517111
ebirs1057517111
HLIrs1057517111
Exacrs1057517111
Gnomadrs1057517111
Varsomers1057517111
LitVarrs1057517111
Maprs1057517111
PheGenIrs1057517111
Biobankrs1057517111
1000 genomesrs1057517111
hgdprs1057517111
ensemblrs1057517111
geneviewrs1057517111
scholarrs1057517111
googlers1057517111
pharmgkbrs1057517111
gwascentralrs1057517111
openSNPrs1057517111
23andMers1057517111
23andMe allrs1057517111
SNPshotrs1057517111
SNPdbers1057517111
MSV3drs1057517111
GWAS Ctlgrs1057517111
Max Magnitude0
ClinVar
Risk rs1057517111(-;-)
Alt rs1057517111(-;-)
Reference Rs1057517111(C;C)
Significance Probable-Pathogenic
Disease Salla disease
Variation info
Gene SLC17A5
CLNDBN Salla disease
Reversed 1
HGVS NC_000006.11:g.74320255delG
CLNSRC
CLNACC RCV000410715.1,