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: rs10032216
rs10032216
LOC107986195
3 4 148748354 intron variant T/A;C snv 0.800 1.000 2 2013 2017
dbSNP: rs10818050
rs10818050
PTCSC2
2 9 97776641 intron variant A/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs112817873
rs112817873
PTCSC2
1 9 97777236 intron variant A/T snv 0.700 1.000 1 2015 2015
dbSNP: rs11624776
rs11624776 		3 14 93129246 regulatory region variant A/C;T snv 0.800 1.000 1 2013 2013
dbSNP: rs116552240
rs116552240
ABO
1 9 133273682 intron variant A/T snv 0.700 1.000 1 2015 2015
dbSNP: rs12390237
rs12390237
PRKX
1 X 3694040 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12893151
rs12893151
LOC101928462
1 14 81153601 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs13100823
rs13100823
IGF2BP2
1 3 185796300 intron variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1382879
rs1382879
PDE8B
3 1.000 0.040 5 77226043 intron variant T/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs1443438
rs1443438
PTCSC2
8 0.827 0.080 9 97787746 intron variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs17398234
rs17398234
DNAJC5B ; LOC105375883
1 8 66022667 intron variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs17776563
rs17776563 		2 15 88575873 intergenic variant G/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs2046045
rs2046045
PDE8B
4 0.925 0.080 5 77239986 intron variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs2235544
rs2235544
DIO1
14 0.742 0.240 1 53909897 intron variant C/A;T snv 0.53; 4.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs2396083
rs2396083
LOC105375069 ; LOC107986598
5 0.882 0.160 6 43837071 intron variant G/A;C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs28133
rs28133
CERS4
1 19 8262618 downstream gene variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs28435578
rs28435578
LOC107986195
1 4 148725386 intron variant T/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs30227
rs30227
MIR193BHG
1 16 14311571 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs657152
rs657152
ABO
22 0.882 0.200 9 133263862 intron variant A/C;T snv 0.800 1.000 1 2013 2013
dbSNP: rs7045138
rs7045138
PTCSC2
3 9 97829181 intron variant C/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs7329958
rs7329958
SPATA13
1 13 24207942 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs753760
rs753760
PDE10A
2 6 165632995 intron variant C/A;G snv 0.800 1.000 1 2013 2013
dbSNP: rs7568039
rs7568039
LOC101928278
1 2 216747598 intron variant A/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs77819282
rs77819282
NSF ; LRRC37A2 ; NSFP1
1 17 46685223 intron variant G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs9915657
rs9915657
SOX9-AS1
2 17 72131395 intron variant T/A;C snv 0.800 1.000 1 2013 2013