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rs730880294

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730880294(C;T)
Make rs730880294(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position12503644
GeneTSEN2
is asnp
is mentioned by
dbSNPrs730880294
ebirs730880294
HLIrs730880294
Exacrs730880294
Varsomers730880294
Maprs730880294
PheGenIrs730880294
hapmaprs730880294
1000 genomesrs730880294
hgdprs730880294
ensemblrs730880294
gopubmedrs730880294
geneviewrs730880294
scholarrs730880294
googlers730880294
pharmgkbrs730880294
gwascentralrs730880294
openSNPrs730880294
23andMers730880294
23andMe allrs730880294
SNP Nexus

SNPshotrs730880294
SNPdbers730880294
MSV3drs730880294
GWAS Ctlgrs730880294
Max Magnitude0
ClinVar
Risk rs730880294(T;T)
Alt rs730880294(T;T)
Reference rs730880294(C;C)
Significance Pathogenic
Disease Pontocerebellar hypoplasia type 2B
Variation info
Gene TSEN2
CLNDBN Pontocerebellar hypoplasia type 2B
Reversed 0
HGVS NC_000003.11:g.12545143C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000157629.3,