Source: CURATED ×
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: rs12656571
rs12656571
MAN2A1
1 1.000 0.120 5 109742339 intron variant G/A snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs148995025
rs148995025
LINC02196
1 1.000 0.120 5 7085094 intron variant A/G snv 8.9E-03 0.700 1.000 1 2019 2019
dbSNP: rs1535724
rs1535724
LMO7-AS1
1 1.000 0.120 13 75609137 intron variant G/C;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1571942
rs1571942
PLXDC2
2 0.925 0.160 10 20253705 intron variant A/G snv 0.15 0.800 1.000 1 2011 2011
dbSNP: rs1711347
rs1711347
LINC02774
1 1.000 0.120 1 243998680 intron variant G/A snv 0.53 0.700 1.000 1 2011 2011
dbSNP: rs17376456
rs17376456
KIAA0825 ; LOC105379087
1 1.000 0.120 5 94221997 intron variant A/G snv 8.7E-02 0.810 1.000 1 2011 2011
dbSNP: rs2031236
rs2031236
UCHL3
1 1.000 0.120 13 75595641 intron variant G/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs2038823
rs2038823
HS6ST3
1 1.000 0.120 13 96299179 intron variant G/A;T snv 0.800 1.000 1 2011 2011
dbSNP: rs227453
rs227453 		1 1.000 0.120 6 165065309 intron variant A/T snv 0.18 0.700 1.000 1 2011 2011
dbSNP: rs227455
rs227455 		1 1.000 0.120 6 165064562 intron variant T/C snv 0.17 0.700 1.000 1 2011 2011
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: rs2811893
rs2811893
MYSM1
1 1.000 0.120 1 58696476 intron variant T/C snv 0.39 0.800 1.000 1 2011 2011
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: rs476141
rs476141
LINC02774
1 1.000 0.120 1 244013122 intron variant G/A;T snv 0.800 1.000 1 2011 2011
dbSNP: rs4787008
rs4787008
RBFOX1
1 1.000 0.120 16 7365551 intron variant A/G snv 0.87 0.800 1.000 1 2011 2011
dbSNP: rs4838605
rs4838605
ARHGAP22
1 0.882 0.160 10 48491914 intron variant C/T snv 0.38 0.810 1.000 1 2011 2014
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: 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