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rs797046092

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797046092(C;C)
Make rs797046092(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position2622191
GeneVLDLR, VLDLR-AS1
is asnp
is mentioned by
dbSNPrs797046092
dbSNP (classic)rs797046092
ClinGenrs797046092
ebirs797046092
HLIrs797046092
Exacrs797046092
Gnomadrs797046092
Varsomers797046092
LitVarrs797046092
Maprs797046092
PheGenIrs797046092
Biobankrs797046092
1000 genomesrs797046092
hgdprs797046092
ensemblrs797046092
geneviewrs797046092
scholarrs797046092
googlers797046092
pharmgkbrs797046092
gwascentralrs797046092
openSNPrs797046092
23andMers797046092
SNPshotrs797046092
SNPdbers797046092
MSV3drs797046092
GWAS Ctlgrs797046092
Max Magnitude0
ClinVar
Risk rs797046092(C;C)
Alt rs797046092(C;C)
Reference Rs797046092(T;T)
Significance Probable-Pathogenic
Disease Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1
Variation info
Gene VLDLR-AS1 VLDLR
CLNDBN Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1
Reversed 0
HGVS NC_000009.11:g.2622191T>C
CLNSRC
CLNACC RCV000193524.1,