Have questions? Visit https://www.reddit.com/r/SNPedia

rs121912425

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912425(C;T)
Make rs121912425(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position4683472
GeneITPR1
is asnp
is mentioned by
dbSNPrs121912425
ebirs121912425
HLIrs121912425
Exacrs121912425
Varsomers121912425
Maprs121912425
PheGenIrs121912425
hapmaprs121912425
1000 genomesrs121912425
hgdprs121912425
ensemblrs121912425
gopubmedrs121912425
geneviewrs121912425
scholarrs121912425
googlers121912425
pharmgkbrs121912425
gwascentralrs121912425
openSNPrs121912425
23andMers121912425
23andMe allrs121912425
SNP Nexus

SNPshotrs121912425
SNPdbers121912425
MSV3drs121912425
GWAS Ctlgrs121912425
Max Magnitude0
OMIM147265
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121912425(T;T)
Alt rs121912425(T;T)
Reference rs121912425(C;C)
Significance Pathogenic
Disease Spinocerebellar ataxia 15
Variation info
Gene ITPR1
CLNDBN Spinocerebellar ataxia 15
Reversed 0
HGVS NC_000003.11:g.4725156C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015924.27,