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: rs10919388
rs10919388 		4 1 170403362 intergenic variant A/C snv 0.71 0.700 1.000 3 2018 2019
dbSNP: rs905938
rs905938
ZBTB7B ; DCST2
5 1 155018913 intron variant T/C snv 0.24 0.700 1.000 3 2018 2019
dbSNP: rs1011731
rs1011731
PIGC ; DNM3
4 1 172377408 intron variant G/A snv 0.46 0.800 1.000 2 2010 2015
dbSNP: rs10923724
rs10923724 		3 1 119004219 upstream gene variant C/T snv 0.53 0.700 1.000 2 2018 2019
dbSNP: rs2298632
rs2298632
TCEA3
2 1 23383982 3 prime UTR variant C/T snv 0.40 0.700 1.000 2 2018 2019
dbSNP: rs2765539
rs2765539 		1 1 119006795 TF binding site variant C/G;T snv 0.700 1.000 2 2015 2019
dbSNP: rs2791550
rs2791550
LYPLAL1-AS1 ; LOC107985272
1 1 219482027 intergenic variant T/G snv 0.61 0.700 1.000 2 2018 2019
dbSNP: rs2993481
rs2993481 		1 1 3056869 downstream gene variant A/T snv 0.24 0.700 1.000 2 2018 2019
dbSNP: rs3851294
rs3851294
DSTYK
2 1 205161285 missense variant A/G;T snv 0.93 0.700 1.000 2 2018 2019
dbSNP: rs6688233
rs6688233 		1 1 9275686 downstream gene variant C/T snv 0.19 0.700 1.000 2 2018 2019
dbSNP: rs984222
rs984222
TBX15
3 1 118961220 intron variant C/A;G snv 0.800 1.000 2 2010 2019
dbSNP: rs1044299
rs1044299
PAPPA2
2 1 176842737 3 prime UTR variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10458575
rs10458575 		1 1 65104082 regulatory region variant T/C snv 0.45 0.700 1.000 1 2019 2019
dbSNP: rs10752944
rs10752944
PIGC ; DNM3 ; LOC102724528
1 1 172394384 non coding transcript exon variant C/T snv 0.47 0.700 1.000 1 2019 2019
dbSNP: rs10863961
rs10863961
PPP2R5A
1 1 212294505 intron variant G/A snv 0.24 0.700 1.000 1 2019 2019
dbSNP: rs10875120
rs10875120
DPYD ; MIR137HG ; LINC01930
1 1 97934347 intron variant G/T snv 0.72 0.700 1.000 1 2019 2019
dbSNP: rs10923712
rs10923712
TBX15
4 1 118962811 intron variant G/A snv 0.56 0.700 1.000 1 2019 2019
dbSNP: rs10927263
rs10927263
NID1
1 1 236017804 intron variant A/G snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs1106529
rs1106529
TBX15
3 1 118988874 intron variant G/A snv 0.77 0.700 1.000 1 2019 2019
dbSNP: rs11102800
rs11102800
TRIM33
2 1.000 0.040 1 114498310 intron variant C/T snv 0.58 0.700 1.000 1 2019 2019
dbSNP: rs11204762
rs11204762
PRUNE1
1 1 151027261 synonymous variant A/G snv 0.25 0.24 0.700 1.000 1 2019 2019
dbSNP: rs116565273
rs116565273
WARS2-AS1
1 1 119260389 non coding transcript exon variant G/A snv 6.9E-03 0.700 1.000 1 2019 2019
dbSNP: rs12024554
rs12024554
NBL1 ; MICOS10 ; MICOS10-NBL1
1 1 19599265 intron variant C/T snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs12042959
rs12042959
SDCCAG8
2 1 243369971 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs12061508
rs12061508 		3 1.000 0.040 1 196615338 intergenic variant G/A snv 0.23 0.700 1.000 1 2019 2019