Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2296146
rs2296146
UCHL3
1 1.000 0.120 13 75569436 non coding transcript exon variant T/A;C snv 4.5E-06; 0.18 0.700 1.000 1 2013 2013
dbSNP: rs2300993
rs2300993
MAN2A1
1 1.000 0.120 5 109702928 intron variant G/A snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs2328963
rs2328963
UCHL3
1 1.000 0.120 13 75601390 intron variant C/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs2328964
rs2328964
UCHL3
1 1.000 0.120 13 75564694 intron variant G/T snv 0.79 0.700 1.000 1 2013 2013
dbSNP: rs3783028
rs3783028
UCHL3
1 1.000 0.120 13 75591146 intron variant T/C snv 0.77 0.700 1.000 1 2013 2013
dbSNP: rs3818355
rs3818355
LMO7 ; LMO7-AS1
1 1.000 0.120 13 75622731 intron variant C/T snv 0.80 0.700 1.000 1 2013 2013
dbSNP: rs3913535
rs3913535
NOX4
2 0.925 0.160 11 89363589 intron variant T/C snv 0.30 0.700 1.000 1 2018 2018
dbSNP: rs4885322
rs4885322
UCHL3
1 1.000 0.120 13 75597195 intron variant A/G snv 0.77 0.700 1.000 1 2013 2013
dbSNP: rs4885323
rs4885323
UCHL3
1 1.000 0.120 13 75598278 intron variant C/T snv 0.77 0.700 1.000 1 2013 2013
dbSNP: rs512825
rs512825
LINC02774
1 1.000 0.120 1 244006892 intron variant A/G snv 0.39 0.700 1.000 1 2011 2011
dbSNP: rs61741249
rs61741249
LOC105375610
1 1.000 0.120 7 157516897 non coding transcript exon variant C/T snv 5.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs6562915
rs6562915
UCHL3
1 1.000 0.120 13 75596750 intron variant G/T snv 0.77 0.700 1.000 1 2013 2013
dbSNP: rs6562916
rs6562916
UCHL3
1 1.000 0.120 13 75597086 intron variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs7317250
rs7317250
UCHL3
1 1.000 0.120 13 75593005 intron variant G/A snv 0.77 0.700 1.000 1 2013 2013
dbSNP: rs7324195
rs7324195
LMO7-AS1
1 1.000 0.120 13 75618386 intron variant G/A snv 0.77 0.700 1.000 1 2013 2013
dbSNP: rs7339146
rs7339146
UCHL3
1 1.000 0.120 13 75599583 intron variant G/A snv 0.19 0.700 1.000 1 2013 2013
dbSNP: rs74152685
rs74152685 		1 1.000 0.120 1 247647989 intron variant G/T snv 4.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs75360147
rs75360147
SLC28A3
1 1.000 0.120 9 84349773 intron variant T/C snv 2.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs7982517
rs7982517
UCHL3
1 1.000 0.120 13 75587903 intron variant A/G snv 0.77 0.700 1.000 1 2013 2013
dbSNP: rs7986566
rs7986566
LMO7 ; LMO7-AS1
1 1.000 0.120 13 75623795 intron variant C/T snv 0.77 0.700 1.000 1 2013 2013
dbSNP: rs7996884
rs7996884
UCHL3
1 1.000 0.120 13 75598608 intron variant T/A snv 0.77 0.700 1.000 1 2013 2013
dbSNP: rs8192763
rs8192763
UCHL3 ; LMO7-AS1
1 1.000 0.120 13 75605034 intron variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs9543990
rs9543990
UCHL3
1 1.000 0.120 13 75598298 intron variant G/C;T snv 0.700 1.000 1 2013 2013
dbSNP: rs9565164
rs9565164
TBC1D4
1 1.000 0.120 13 75465240 intron variant T/C snv 4.7E-02 0.700 1.000 1 2013 2013
dbSNP: rs9565165
rs9565165
TBC1D4
1 1.000 0.120 13 75478654 intron variant G/A snv 4.7E-02 0.700 1.000 1 2013 2013