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rs146095590

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs146095590(C;T)
Make rs146095590(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position73610399
GeneSLC17A5
is asnp
is mentioned by
dbSNPrs146095590
dbSNP (classic)rs146095590
ClinGenrs146095590
ebirs146095590
HLIrs146095590
Exacrs146095590
Gnomadrs146095590
Varsomers146095590
LitVarrs146095590
Maprs146095590
PheGenIrs146095590
Biobankrs146095590
1000 genomesrs146095590
hgdprs146095590
ensemblrs146095590
geneviewrs146095590
scholarrs146095590
googlers146095590
pharmgkbrs146095590
gwascentralrs146095590
openSNPrs146095590
23andMers146095590
23andMe allrs146095590
SNPshotrs146095590
SNPdbers146095590
MSV3drs146095590
GWAS Ctlgrs146095590
Max Magnitude0
ClinVar
Risk rs146095590(T;T)
Alt rs146095590(T;T)
Reference Rs146095590(C;C)
Significance Probable-Pathogenic
Disease Salla disease
Variation info
Gene SLC17A5
CLNDBN Salla disease
Reversed 0
HGVS NC_000006.11:g.74320122C>T
CLNSRC
CLNACC RCV000409414.1,