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rs1057516601

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516601(A;A)
Make rs1057516601(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position73621873
GeneSLC17A5
is asnp
is mentioned by
dbSNPrs1057516601
dbSNP (old)rs1057516601
ClinGenrs1057516601
ebirs1057516601
HLIrs1057516601
Exacrs1057516601
Gnomadrs1057516601
Varsomers1057516601
Maprs1057516601
PheGenIrs1057516601
Biobankrs1057516601
1000 genomesrs1057516601
hgdprs1057516601
ensemblrs1057516601
gopubmedrs1057516601
geneviewrs1057516601
scholarrs1057516601
googlers1057516601
pharmgkbrs1057516601
gwascentralrs1057516601
openSNPrs1057516601
23andMers1057516601
23andMe allrs1057516601
SNPshotrs1057516601
SNPdbers1057516601
MSV3drs1057516601
GWAS Ctlgrs1057516601
Max Magnitude0
ClinVar
Risk rs1057516601(A;A)
Alt rs1057516601(A;A)
Reference Rs1057516601(G;G)
Significance Probable-Pathogenic
Disease Salla disease
Variation info
Gene SLC17A5
CLNDBN Salla disease
Reversed 1
HGVS NC_000006.11:g.74331596C>T
CLNSRC
CLNACC RCV000409832.1,