Source: CURATED

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: rs397514600
rs397514600
NOL3
1.000 16 67174230 missense variant G/C snv
CUI: C3539916
Disease: MYOCLONUS, FAMILIAL CORTICAL
MYOCLONUS, FAMILIAL CORTICAL 		0.700 1.000 2 2012 2014
dbSNP: rs2233455
rs2233455
NOL3
16 67174030 synonymous variant C/G;T snv 8.4E-02 0.14
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2233455
rs2233455
NOL3
16 67174030 synonymous variant C/G;T snv 8.4E-02 0.14
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1456161420
rs1456161420
HSF4 ; NOL3
1.000 16 67169277 splice acceptor variant A/G snv 2.0E-05
CUI: C3888417
Disease: CATARACT 5, MULTIPLE TYPES
CATARACT 5, MULTIPLE TYPES 		0.700 0
dbSNP: rs780601409
rs780601409
NOL3
1.000 16 67174407 missense variant G/A snv 2.1E-04 6.3E-05
CUI: C3539916
Disease: MYOCLONUS, FAMILIAL CORTICAL
MYOCLONUS, FAMILIAL CORTICAL 		0.700 0