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: rs114790220
rs114790220 		1 1.000 0.120 8 5306434 intergenic variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs11662496
rs11662496 		1 1.000 0.120 18 43695432 intergenic variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11771617
rs11771617 		1 1.000 0.120 7 125733372 intergenic variant A/G snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs12219125
rs12219125 		1 0.925 0.120 10 20304158 intergenic variant G/T snv 0.15 0.810 1.000 1 2011 2019
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: rs13064954
rs13064954 		1 1.000 0.120 3 157136953 downstream gene variant G/A snv 7.9E-02 0.810 1.000 1 2011 2016
dbSNP: rs142610219
rs142610219
LOC107986902
1 1.000 0.120 8 115906039 intergenic variant A/T snv 2.7E-03 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: 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: rs17404956
rs17404956 		1 1.000 0.120 5 166962488 regulatory region variant A/G snv 5.5E-02 0.800 1.000 1 2011 2011
dbSNP: rs202069793
rs202069793
LOC107987105
1 1.000 0.120 9 104713014 intergenic variant GA/- delins 0.63 0.700 1.000 1 2019 2019
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: rs2104455
rs2104455 		1 1.000 0.120 6 9368285 intergenic variant A/G snv 0.30 0.700 1.000 1 2019 2019
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: 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: 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