Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1012275384
rs1012275384
TSEN54
0.925 0.080 17 75522019 frameshift variant C/- delins 1.4E-05 7.0E-06
CUI: C1848526
Disease: Pontocerebellar Hypoplasia Type 2A
Pontocerebellar Hypoplasia Type 2A 		0.700 0
dbSNP: rs1012275384
rs1012275384
TSEN54
0.925 0.080 17 75522019 frameshift variant C/- delins 1.4E-05 7.0E-06
CUI: C1856974
Disease: PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)
PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder) 		0.700 0