Source: ALL

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: rs121918306
rs121918306
SPTBN2
1.000 0.080 11 66713645 missense variant A/G snv
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5 		0.840 1.000 7 2006 2017
dbSNP: rs397514749
rs397514749
SPTBN2
1.000 0.080 11 66707731 missense variant G/A snv
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5 		0.800 1.000 3 2006 2013
dbSNP: rs1554984881
rs1554984881
SPTBN2
1.000 0.080 11 66705399 missense variant A/G snv
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5 		0.700 0
dbSNP: rs1554986337
rs1554986337
SPTBN2
1.000 0.080 11 66708181 missense variant C/T snv
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5 		0.700 0
dbSNP: rs875989881
rs875989881
SPTBN2
1.000 0.080 11 66715235 missense variant A/G snv
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5 		0.700 0