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rs146349901

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs146349901(C;T)
Make rs146349901(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position72888378
GeneSPR
is asnp
is mentioned by
dbSNPrs146349901
dbSNP (old)rs146349901
ClinGenrs146349901
ebirs146349901
HLIrs146349901
Exacrs146349901
Gnomadrs146349901
Varsomers146349901
Maprs146349901
PheGenIrs146349901
Biobankrs146349901
1000 genomesrs146349901
hgdprs146349901
ensemblrs146349901
gopubmedrs146349901
geneviewrs146349901
scholarrs146349901
googlers146349901
pharmgkbrs146349901
gwascentralrs146349901
openSNPrs146349901
23andMers146349901
23andMe allrs146349901
SNPshotrs146349901
SNPdbers146349901
MSV3drs146349901
GWAS Ctlgrs146349901
Max Magnitude0
ClinVar
Risk rs146349901(T;T)
Alt rs146349901(T;T)
Reference Rs146349901(C;C)
Significance Pathogenic
Disease not provided Dystonia
Variation info
Gene SPR
CLNDBN not provided Dystonia, dopa-responsive Dystonia
Reversed 0
HGVS NC_000002.11:g.73115507C>G; NC_000002.11:g.73115507C>T
CLNSRC
CLNACC RCV000494407.1, RCV000297483.1, RCV000461424.1,