Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs201335279
rs201335279
1.000 5 151521647 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C4540400
Disease: SPINOCEREBELLAR ATAXIA 45
SPINOCEREBELLAR ATAXIA 45
0.700 1.000 1 2017 2017
dbSNP: rs770597316
rs770597316
1.000 5 151521835 missense variant C/G snv 8.0E-06 1.4E-05
CUI: C4540400
Disease: SPINOCEREBELLAR ATAXIA 45
SPINOCEREBELLAR ATAXIA 45
0.700 0