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: rs532464664
rs532464664
CHADL
3 0.882 0.040 22 41238083 frameshift variant -/GCCCGCGC delins 4.8E-03 1.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs11456119
rs11456119
DYNC1I1
2 0.925 0.040 7 96089185 intron variant A/-;AA;AAA delins 0.700 1.000 1 2019 2019
dbSNP: rs17659798
rs17659798
LINC02742
2 0.925 0.040 11 28853450 intron variant A/C snv 0.24 0.700 1.000 1 2019 2019
dbSNP: rs6725958
rs6725958
FN1
1 1.000 0.040 2 215397898 intron variant A/C snv 0.61 0.61 0.010 1.000 1 2014 2014
dbSNP: rs2820436
rs2820436
LYPLAL1-AS1
4 0.882 0.040 1 219467338 intergenic variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs4144782
rs4144782
EN1
2 0.925 0.040 2 118844296 non coding transcript exon variant A/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs62406718
rs62406718
BTNL8
2 0.925 0.040 5 180923167 intron variant A/C;G snv 0.74 0.700 1.000 1 2018 2018
dbSNP: rs7342880
rs7342880
TIMP2 ; CEP295NL
1 1.000 0.040 17 78878430 intron variant A/C;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1044122
rs1044122
ADAM12
2 0.925 0.040 10 126036209 synonymous variant A/G snv 0.27 0.26 0.030 0.667 3 2014 2017
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2007 2007
dbSNP: rs10758594
rs10758594
GLIS3
2 0.925 0.040 9 4295583 intron variant A/G snv 0.45 0.700 1.000 1 2019 2019
dbSNP: rs10948172
rs10948172
SUPT3H ; LOC101929770
3 0.882 0.040 6 44809954 intron variant A/G snv 0.27 0.700 1.000 1 2019 2019
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2016 2016
dbSNP: rs11564299
rs11564299 		2 0.925 0.040 18 28180064 upstream gene variant A/G snv 0.17 0.010 1.000 1 2019 2019
dbSNP: rs12459350
rs12459350
DOT1L
3 0.925 0.200 19 2176587 intron variant A/G snv 0.46 0.010 < 0.001 1 2014 2014
dbSNP: rs12470967
rs12470967
LOC729254
2 0.925 0.040 2 191807255 intron variant A/G snv 0.57 0.700 1.000 1 2019 2019
dbSNP: rs13301537
rs13301537
ASPN ; CENPP
2 0.925 0.040 9 92466765 intron variant A/G snv 0.38 0.010 1.000 1 2014 2014
dbSNP: rs17786744
rs17786744
LOC107986931
4 0.882 0.120 8 23919493 intergenic variant A/G snv 0.37 0.010 1.000 1 2019 2019
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.010 < 0.001 1 2017 2017
dbSNP: rs1800802
rs1800802
MGP ; C12orf60
3 0.925 0.040 12 14885985 intron variant A/G snv 0.15 0.010 1.000 1 2019 2019
dbSNP: rs187084
rs187084
TLR9
36 0.641 0.480 3 52227015 intron variant A/G snv 0.38 0.010 1.000 1 2017 2017
dbSNP: rs202384
rs202384
SLC13A3
1 1.000 0.040 20 46578908 intron variant A/G snv 0.60 0.010 1.000 1 2018 2018
dbSNP: rs2061026
rs2061026
LTBP1
1 1.000 0.040 2 33210282 intron variant A/G snv 0.52 0.700 1.000 1 2018 2018
dbSNP: rs2267443
rs2267443
SREBF2
5 0.882 0.120 22 41891450 intron variant A/G snv 0.67 0.010 < 0.001 1 2014 2014
dbSNP: rs34195470
rs34195470
WWP2
1 1.000 0.040 16 69921787 intron variant A/G snv 0.46 0.700 1.000 1 2018 2018