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rs398122380

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GTTACAA;GTTACAA) 0 common in clinvar
Make rs398122380(-;-)
Make rs398122380(-;GTTACAA)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position2645017
GeneVLDLR
is asnp
is mentioned by
dbSNPrs398122380
ebirs398122380
HLIrs398122380
Exacrs398122380
Varsomers398122380
Maprs398122380
PheGenIrs398122380
hapmaprs398122380
1000 genomesrs398122380
hgdprs398122380
ensemblrs398122380
gopubmedrs398122380
geneviewrs398122380
scholarrs398122380
googlers398122380
pharmgkbrs398122380
gwascentralrs398122380
openSNPrs398122380
23andMers398122380
23andMe allrs398122380
SNP Nexus

SNPshotrs398122380
SNPdbers398122380
MSV3drs398122380
GWAS Ctlgrs398122380
Max Magnitude0
ClinVar
Risk rs398122380(;)
Alt rs398122380(;)
Reference rs398122380(GTTACAA;GTTACAA)
Significance Pathogenic
Disease Cerebellar ataxia
Variation info
Gene VLDLR
CLNDBN Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1
Reversed 0
HGVS NC_000009.11:g.2645017_2645023delGTTACAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000049269.27,