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rs1057516862

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516862(-;-)
Make rs1057516862(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position73636628
GeneSLC17A5
is asnp
is mentioned by
dbSNPrs1057516862
dbSNP (old)rs1057516862
ClinGenrs1057516862
ebirs1057516862
HLIrs1057516862
Exacrs1057516862
Gnomadrs1057516862
Varsomers1057516862
Maprs1057516862
PheGenIrs1057516862
Biobankrs1057516862
1000 genomesrs1057516862
hgdprs1057516862
ensemblrs1057516862
gopubmedrs1057516862
geneviewrs1057516862
scholarrs1057516862
googlers1057516862
pharmgkbrs1057516862
gwascentralrs1057516862
openSNPrs1057516862
23andMers1057516862
23andMe allrs1057516862
SNPshotrs1057516862
SNPdbers1057516862
MSV3drs1057516862
GWAS Ctlgrs1057516862
Max Magnitude0
ClinVar
Risk rs1057516862(-;-)
Alt rs1057516862(-;-)
Reference Rs1057516862(C;C)
Significance Probable-Pathogenic
Disease Salla disease
Variation info
Gene SLC17A5
CLNDBN Salla disease
Reversed 1
HGVS NC_000006.11:g.74346351delG
CLNSRC
CLNACC RCV000410694.1,