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rs797046057

From SNPedia

Orientationplus
Make rs797046057(-;-)
Make rs797046057(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position75521900
GeneTSEN54
is asnp
is mentioned by
dbSNPrs797046057
ebirs797046057
HLIrs797046057
Exacrs797046057
Varsomers797046057
Maprs797046057
PheGenIrs797046057
hapmaprs797046057
1000 genomesrs797046057
hgdprs797046057
ensemblrs797046057
gopubmedrs797046057
geneviewrs797046057
scholarrs797046057
googlers797046057
pharmgkbrs797046057
gwascentralrs797046057
openSNPrs797046057
23andMers797046057
23andMe allrs797046057
SNP Nexus

SNPshotrs797046057
SNPdbers797046057
MSV3drs797046057
GWAS Ctlgrs797046057
Max Magnitude
ClinVar
Risk rs797046057(;)
Alt rs797046057(;)
Reference rs797046057(G;G)
Significance Pathogenic
Disease Pontocerebellar hypoplasia type 2A
Variation info
Gene TSEN54
CLNDBN Pontocerebellar hypoplasia type 2A
Reversed 0
HGVS NC_000017.10:g.73517981delG
CLNSRC
CLNACC RCV000193834.1,