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rs797046052

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAC;AAC) 0 common in clinvar
Make rs797046052(-;-)
Make rs797046052(-;CAA)
Make rs797046052(CAA;CAA)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position12489941
GeneTSEN2
is asnp
is mentioned by
dbSNPrs797046052
ClinGenrs797046052
ebirs797046052
HLIrs797046052
Exacrs797046052
Varsomers797046052
Maprs797046052
PheGenIrs797046052
hapmaprs797046052
1000 genomesrs797046052
hgdprs797046052
ensemblrs797046052
gopubmedrs797046052
geneviewrs797046052
scholarrs797046052
googlers797046052
pharmgkbrs797046052
gwascentralrs797046052
openSNPrs797046052
23andMers797046052
23andMe allrs797046052
SNP Nexus

SNPshotrs797046052
SNPdbers797046052
MSV3drs797046052
GWAS Ctlgrs797046052
Max Magnitude0
ClinVar
Risk rs797046052(-;-)
Alt rs797046052(-;-)
Reference Rs797046052(AAC;AAC)
Significance Probable-Pathogenic
Disease Pontocerebellar hypoplasia type 2B
Variation info
Gene TSEN2
CLNDBN Pontocerebellar hypoplasia type 2B
Reversed 0
HGVS NC_000003.11:g.12531440_12531442delCAA
CLNSRC
CLNACC RCV000193111.1,