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rs879253780

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs879253780(C;T)
Make rs879253780(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position184054856
GeneTSEN15
is asnp
is mentioned by
dbSNPrs879253780
ebirs879253780
HLIrs879253780
Exacrs879253780
Varsomers879253780
Maprs879253780
PheGenIrs879253780
hapmaprs879253780
1000 genomesrs879253780
hgdprs879253780
ensemblrs879253780
gopubmedrs879253780
geneviewrs879253780
scholarrs879253780
googlers879253780
pharmgkbrs879253780
gwascentralrs879253780
openSNPrs879253780
23andMers879253780
23andMe allrs879253780
SNP Nexus

SNPshotrs879253780
SNPdbers879253780
MSV3drs879253780
GWAS Ctlgrs879253780
Max Magnitude0
ClinVar
Risk rs879253780(T;T)
Alt rs879253780(T;T)
Reference rs879253780(C;C)
Significance Pathogenic
Disease Pontocerebellar hypoplasia
Variation info
Gene TSEN15
CLNDBN Pontocerebellar hypoplasia, type 2f
Reversed 0
HGVS NC_000001.10:g.184023990C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000234984.1,