PUM1, pumilio RNA binding family member 1, 9698

N. diseases: 13; N. variants: 4
Disease: SPINOCEREBELLAR ATAXIA 47 ×
Source: CURATED ×
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: rs771145682
rs771145682 		1.000 1 30942015 missense variant T/A snv 8.0E-06
CUI: C4693672
Disease: SPINOCEREBELLAR ATAXIA 47
SPINOCEREBELLAR ATAXIA 47 		0.800 1.000 1 2018 2018
dbSNP: rs1557539450
rs1557539450 		1.000 1 30933339 missense variant G/A snv
CUI: C4693672
Disease: SPINOCEREBELLAR ATAXIA 47
SPINOCEREBELLAR ATAXIA 47 		0.700 1.000 1 2018 2018
dbSNP: rs1557541619
rs1557541619 		1.000 1 30936663 missense variant G/A snv
CUI: C4693672
Disease: SPINOCEREBELLAR ATAXIA 47
SPINOCEREBELLAR ATAXIA 47 		0.700 1.000 1 2018 2018