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: rs16896068
rs16896068
LCORL
2 4 17943217 intron variant G/A snv 0.25 0.700 1.000 2 2008 2019
dbSNP: rs2274432
rs2274432
TSEN15
5 1 184051811 missense variant G/A snv 0.33 0.28 0.700 1.000 2 2008 2019
dbSNP: rs2326458
rs2326458 		2 16 84954073 intergenic variant C/A snv 0.67 0.700 1.000 2 2008 2014
dbSNP: rs3116602
rs3116602
DLEU1 ; DLEU7
2 13 50537219 intron variant T/G snv 0.15 0.700 1.000 2 2008 2019
dbSNP: rs3748069
rs3748069
ADGRG6
4 6 142446496 downstream gene variant A/G snv 0.39 0.700 1.000 2 2008 2019
dbSNP: rs3760318
rs3760318
ADAP2
4 17 30920697 intron variant G/A snv 0.39 0.700 1.000 2 2008 2014
dbSNP: rs3825199
rs3825199
SOCS2
2 12 93583178 3 prime UTR variant A/G;T snv 0.700 1.000 2 2008 2014
dbSNP: rs6060373
rs6060373
UQCC1
4 0.925 0.200 20 35326405 intron variant A/G snv 0.49 0.700 1.000 2 2008 2019
dbSNP: rs7153027
rs7153027 		2 14 91960878 intergenic variant A/C snv 0.44 0.700 1.000 2 2008 2015
dbSNP: rs7209435
rs7209435
MAP3K3
2 17 63635604 intron variant T/A;C;G snv 0.700 1.000 2 2008 2019
dbSNP: rs749052
rs749052 		2 2 231931900 intergenic variant T/C snv 7.4E-02 0.700 1.000 2 2008 2014
dbSNP: rs7869550
rs7869550
PAPPA
2 9 116372517 intron variant A/G snv 0.15 0.700 1.000 2 2008 2019
dbSNP: rs798544
rs798544
AMZ1
2 7 2723468 intron variant C/T snv 0.25 0.700 1.000 2 2008 2019
dbSNP: rs8041863
rs8041863
ACAN
2 15 88816458 intron variant T/A;G snv 0.700 1.000 2 2008 2019
dbSNP: rs9650315
rs9650315 		2 8 56243039 intergenic variant G/T snv 0.21 0.700 1.000 2 2008 2014
dbSNP: rs967417
rs967417 		2 20 6640246 intergenic variant G/A;T snv 0.700 1.000 2 2008 2019
dbSNP: rs1052483
rs1052483 		2 2 219069626 non coding transcript exon variant G/T snv 0.13 0.700 1.000 1 2008 2008
dbSNP: rs10935120
rs10935120
CEP63
2 3 134514250 intron variant A/G snv 0.63 0.700 1.000 1 2008 2008
dbSNP: rs12199222
rs12199222
NUP153
3 1.000 0.040 6 17699091 intron variant G/A;T snv 0.700 1.000 1 2008 2008
dbSNP: rs1390401
rs1390401
ZNF678
2 1 227610249 intron variant A/G snv 0.24 0.700 1.000 1 2008 2008
dbSNP: rs1490388
rs1490388 		2 6 126514509 intron variant C/G;T snv 0.700 1.000 1 2008 2008
dbSNP: rs1492820
rs1492820
HHIP
2 4 144728869 intron variant G/A snv 0.50 0.700 1.000 1 2008 2008
dbSNP: rs17690232
rs17690232 		2 4 54368658 regulatory region variant C/A;G snv 0.700 1.000 1 2008 2008
dbSNP: rs185819
rs185819
TNXB
10 0.851 0.200 6 32082290 missense variant T/A;C;G snv 8.2E-06; 0.58; 4.1E-06 0.700 1.000 1 2008 2008
dbSNP: rs2040494
rs2040494
CDK6
3 7 92627591 intron variant C/T snv 0.64 0.700 1.000 1 2008 2008