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rs1057516492

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516492(-;T)
Make rs1057516492(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position73641866
GeneSLC17A5
is asnp
is mentioned by
dbSNPrs1057516492
dbSNP (old)rs1057516492
ClinGenrs1057516492
ebirs1057516492
HLIrs1057516492
Exacrs1057516492
Gnomadrs1057516492
Varsomers1057516492
Maprs1057516492
PheGenIrs1057516492
Biobankrs1057516492
1000 genomesrs1057516492
hgdprs1057516492
ensemblrs1057516492
gopubmedrs1057516492
geneviewrs1057516492
scholarrs1057516492
googlers1057516492
pharmgkbrs1057516492
gwascentralrs1057516492
openSNPrs1057516492
23andMers1057516492
23andMe allrs1057516492
SNPshotrs1057516492
SNPdbers1057516492
MSV3drs1057516492
GWAS Ctlgrs1057516492
Max Magnitude0
ClinVar
Risk rs1057516492(T;T)
Alt rs1057516492(T;T)
Reference Rs1057516492(-;-)
Significance Probable-Pathogenic
Disease Salla disease
Variation info
Gene SLC17A5
CLNDBN Salla disease
Reversed 1
HGVS NC_000006.11:g.74351590dupA
CLNSRC
CLNACC RCV000409486.1,