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rs869312685

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869312685(A;A)
Make rs869312685(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position4815135
GeneITPR1
is asnp
is mentioned by
dbSNPrs869312685
ebirs869312685
HLIrs869312685
Exacrs869312685
Varsomers869312685
Maprs869312685
PheGenIrs869312685
hapmaprs869312685
1000 genomesrs869312685
hgdprs869312685
ensemblrs869312685
gopubmedrs869312685
geneviewrs869312685
scholarrs869312685
googlers869312685
pharmgkbrs869312685
gwascentralrs869312685
openSNPrs869312685
23andMers869312685
23andMe allrs869312685
SNP Nexus

SNPshotrs869312685
SNPdbers869312685
MSV3drs869312685
GWAS Ctlgrs869312685
Max Magnitude0
ClinVar
Risk rs869312685(A,C;A,C)
Alt rs869312685(A,C;A,C)
Reference rs869312685(G;G)
Significance Pathogenic
Disease Spinocerebellar ataxia 15 Spinocerebellar ataxia 29
Variation info
Gene ITPR1
CLNDBN Spinocerebellar ataxia 15 Spinocerebellar ataxia 29
Reversed 0
HGVS NC_000003.11:g.4856819G>A; NC_000003.11:g.4856819G>C
CLNSRC
CLNACC RCV000209834.1, RCV000235044.1,