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: rs3740199
rs3740199
ADAM12
3 0.882 0.120 10 126330456 missense variant C/A;G snv 2.1E-03; 0.56 0.050 0.600 5 2012 2017
dbSNP: rs1078301
rs1078301
LOC105376225
1 1.000 0.040 9 114146866 intergenic variant A/G;T snv 0.700 1.000 2 2018 2019
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: 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: rs1065080
rs1065080
SMAD3
1 1.000 0.040 15 67164997 missense variant A/G;T snv 0.87 0.010 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: rs11997261
rs11997261 		2 0.925 0.040 8 8666851 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs1278279
rs1278279
ADAM12
2 0.925 0.040 10 126064909 missense variant G/A;C snv 0.27 0.010 < 0.001 1 2017 2017
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: rs1419894030
rs1419894030
ESR1
1 1.000 0.040 6 151944332 missense variant C/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1459997671
rs1459997671
MMP9
3 0.882 0.120 20 46010963 synonymous variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs1529505
rs1529505
F2RL1
1 1.000 0.040 5 76819138 5 prime UTR variant C/G;T snv 0.57 0.010 1.000 1 2019 2019
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
dbSNP: rs1889570
rs1889570
IL17F
3 0.882 0.160 6 52245936 upstream gene variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1982073
rs1982073
TGFB1
32 0.649 0.640 19 41353016 missense variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs200975846
rs200975846
CCDC33
2 0.925 0.040 15 74325252 intron variant T/- delins 0.700 1.000 1 2019 2019
dbSNP: rs2067051
rs2067051
MRPL23 ; H19 ; MIR675
3 0.882 0.120 11 1996938 non coding transcript exon variant C/A;T snv 7.0E-06; 0.41 0.010 1.000 1 2018 2018
dbSNP: rs2521349
rs2521349
MAP2K6
2 0.925 0.040 17 69507360 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2622873
rs2622873
COL11A1
3 0.882 0.040 1 103000497 intron variant T/C;G snv 0.700 1.000 1 2019 2019
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: rs35087650
rs35087650
SMG6
1 1.000 0.040 17 2155056 intron variant T/-;TT;TTT;TTTT;TTTTT delins 0.700 1.000 1 2019 2019
dbSNP: rs35912128
rs35912128
USP8
1 1.000 0.040 15 50438935 intron variant T/-;TT;TTT delins 0.700 1.000 1 2019 2019