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: rs9340799
rs9340799
ESR1
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.020 1.000 2 2014 2015
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs1044122
rs1044122
ADAM12
2 0.925 0.040 10 126036209 synonymous variant A/G snv 0.27 0.26 0.010 1.000 1 2017 2017
dbSNP: rs10948172
rs10948172
SUPT3H ; LOC101929770
3 0.882 0.040 6 44809954 intron variant A/G snv 0.27 0.800 1.000 1 2012 2012
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 2014 2014
dbSNP: rs116855380
rs116855380 		1 1.000 0.040 20 47491550 downstream gene variant A/G snv 2.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs11688000
rs11688000
TACR1
1 1.000 0.040 2 75066030 intron variant A/G snv 0.34 0.010 1.000 1 2017 2017
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs121913474
rs121913474
FGFR2
9 0.790 0.200 10 121515260 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs121918505
rs121918505
FGFR2
5 0.851 0.080 10 121520119 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs12618428
rs12618428 		1 1.000 0.040 2 150876465 regulatory region variant A/G snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs12901071
rs12901071
SMAD3
3 0.882 0.160 15 67078051 intron variant A/G snv 0.25 0.010 1.000 1 2017 2017
dbSNP: rs13301537
rs13301537
ASPN ; CENPP
2 0.925 0.040 9 92466765 intron variant A/G snv 0.38 0.010 1.000 1 2013 2013
dbSNP: rs16901946
rs16901946
PCAT1 ; PRNCR1 ; CASC19
8 0.827 0.160 8 127088680 non coding transcript exon variant A/G snv 1.7E-02 0.010 1.000 1 2018 2018
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
32 0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54 0.010 1.000 1 2018 2018
dbSNP: rs1800802
rs1800802
MGP ; C12orf60
3 0.925 0.040 12 14885985 intron variant A/G snv 0.15 0.010 1.000 1 2011 2011
dbSNP: rs1913707
rs1913707 		2 0.925 0.040 4 13037816 intergenic variant A/G snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs2061027
rs2061027
LTBP1
1 1.000 0.040 2 33209269 intron variant A/G snv 0.44 0.700 1.000 1 2019 2019
dbSNP: rs2073711
rs2073711
CILP
7 0.807 0.160 15 65201874 missense variant A/G snv 0.56 0.61 0.010 1.000 1 2017 2017
dbSNP: rs2966417
rs2966417
LOC105375451
1 1.000 0.040 7 110517489 intron variant A/G snv 0.69 0.700 1.000 1 2012 2012
dbSNP: rs4730250
rs4730250
DUS4L
1 1.000 0.040 7 107567250 intron variant A/G snv 0.12 0.810 1.000 1 2011 2011
dbSNP: rs5030772
rs5030772
FASLG
7 0.790 0.320 1 172664210 intron variant A/G snv 9.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs520540
rs520540
MMP3
2 0.925 0.120 11 102838694 synonymous variant A/G snv 0.57 0.54 0.010 1.000 1 2017 2017
dbSNP: rs62174906
rs62174906
SCN3A
1 1.000 0.040 2 165151847 intron variant A/G snv 0.13 0.700 1.000 1 2011 2011