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: rs12901499
rs12901499
SMAD3
3 0.882 0.040 15 67078107 intron variant G/A snv 0.45 0.020 0.500 2 2018 2018
dbSNP: rs1501299
rs1501299
ADIPOQ ; ADIPOQ-AS1
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.020 1.000 2 2019 2019
dbSNP: rs1799750
rs1799750
MMP1 ; WTAPP1
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.020 1.000 2 2014 2018
dbSNP: rs1871054
rs1871054
ADAM12
3 0.925 0.040 10 126093840 intron variant C/A;T snv 0.020 0.500 2 2017 2017
dbSNP: rs10116772
rs10116772
GLIS3
4 0.882 0.080 9 4290541 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10174098
rs10174098
ITGAV
3 0.882 0.200 2 186628015 intron variant G/A snv 0.62 0.010 1.000 1 2014 2014
dbSNP: rs10190094
rs10190094
AGAP1
1 1.000 0.040 2 235709582 intron variant G/A snv 0.22 0.700 1.000 1 2018 2018
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: rs10817595
rs10817595
AKNA
2 0.925 0.200 9 114361470 intron variant C/A;T snv 0.41 0.010 1.000 1 2018 2018
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: rs1106766
rs1106766
R3HDM2
7 0.882 0.120 12 57415673 intron variant C/T snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs11105466
rs11105466
LOC105369890
2 0.925 0.040 12 89933142 intron variant G/A snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs112129861
rs112129861
RNF111
1 1.000 0.040 15 59047450 intron variant G/A;C snv 0.010 1.000 1 2019 2019
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: rs11732213
rs11732213
SLBP
2 0.925 0.040 4 1702517 intron variant T/C snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs11997261
rs11997261 		2 0.925 0.040 8 8666851 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs12193102
rs12193102
SUPT3H
2 0.925 0.040 6 45177665 intron variant C/G snv 0.33 0.700 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: rs12982744
rs12982744
DOT1L
4 0.925 0.040 19 2177194 intron variant C/A;G;T snv 0.010 1.000 1 2014 2014
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: rs145965284
rs145965284
MAGI1
1 1.000 0.040 3 65812468 intron variant T/A snv 0.19 0.700 1.000 1 2017 2017
dbSNP: rs16868943
rs16868943
COL11A2
3 1.000 0.040 6 33179950 intron variant G/A snv 2.9E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs170205
rs170205
KIAA1217
1 1.000 0.040 10 24300978 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs17567417
rs17567417
LTBP1
2 1.000 0.040 2 33205536 intron variant G/C;T snv 0.700 1.000 1 2019 2019