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rs397514750

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514750(G;T)
Make rs397514750(T;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position2650382
GeneVLDLR
is asnp
is mentioned by
dbSNPrs397514750
ClinGenrs397514750
ebirs397514750
HLIrs397514750
Exacrs397514750
Varsomers397514750
Maprs397514750
PheGenIrs397514750
hapmaprs397514750
1000 genomesrs397514750
hgdprs397514750
ensemblrs397514750
gopubmedrs397514750
geneviewrs397514750
scholarrs397514750
googlers397514750
pharmgkbrs397514750
gwascentralrs397514750
openSNPrs397514750
23andMers397514750
23andMe allrs397514750
SNP Nexus

SNPshotrs397514750
SNPdbers397514750
MSV3drs397514750
GWAS Ctlgrs397514750
Max Magnitude0
ClinVar
Risk rs397514750(T;T)
Alt rs397514750(T;T)
Reference Rs397514750(G;G)
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.2650382G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000054559.19,