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: rs7114303
rs7114303
SBF2
1 1.000 0.040 11 10074140 intron variant G/C snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs12150284
rs12150284
GAS7
3 1.000 0.040 17 10127773 intron variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs9913911
rs9913911
GAS7
4 0.925 0.040 17 10127866 intron variant A/G snv 0.32 0.700 1.000 1 2018 2018
dbSNP: rs11656696
rs11656696
GAS7
5 0.882 0.040 17 10130362 intron variant C/A snv 0.36 0.010 1.000 1 2012 2012
dbSNP: rs869833
rs869833
TMEM182
1 1.000 0.040 2 102766672 intron variant T/C snv 0.49 0.010 < 0.001 1 2013 2013
dbSNP: rs1799750
rs1799750
MMP1 ; WTAPP1
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 1.000 1 2017 2017
dbSNP: rs3753841
rs3753841
COL11A1
7 0.827 0.080 1 102914362 missense variant G/A snv 0.61 0.49 0.700 1.000 1 2012 2012
dbSNP: rs2437812
rs2437812
LOC105376196
1 1.000 0.040 9 104930920 upstream gene variant A/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2472496
rs2472496
LOC105376196
2 1.000 0.040 9 104933072 upstream gene variant G/A snv 0.61 0.700 1.000 1 2018 2018
dbSNP: rs2472493
rs2472493
LOC105376196
5 0.851 0.040 9 104933567 downstream gene variant G/A snv 0.61 0.700 1.000 1 2018 2018
dbSNP: rs284489
rs284489
ZFPM2
3 0.882 0.080 8 104945792 intron variant A/G snv 0.45 0.010 1.000 1 2012 2012
dbSNP: rs2022945
rs2022945 		2 1.000 0.040 8 107238911 intergenic variant A/G snv 0.87 0.700 1.000 1 2018 2018
dbSNP: rs10505100
rs10505100
ANGPT1
1 1.000 0.040 8 107266388 intron variant C/A snv 0.13 0.700 1.000 1 2018 2018
dbSNP: rs1438561194
rs1438561194
WDR36
1 1.000 0.040 5 111092304 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs10038177
rs10038177
WDR36
3 0.925 0.040 5 111100751 intron variant C/T snv 0.53 0.54 0.010 1.000 1 2017 2017
dbSNP: rs35703638
rs35703638
WDR36
1 1.000 0.040 5 111106140 missense variant G/A snv 8.3E-03 4.1E-03 0.010 1.000 1 2005 2005
dbSNP: rs13178997
rs13178997
WDR36
2 0.925 0.040 5 111108550 intron variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs116529882
rs116529882
WDR36
2 0.925 0.040 5 111110280 missense variant G/A snv 7.5E-04 8.9E-04 0.010 1.000 1 2005 2005
dbSNP: rs34595252
rs34595252
WDR36
2 0.925 0.040 5 111119021 missense variant A/G snv 4.3E-03 4.5E-03 0.020 1.000 2 2005 2006
dbSNP: rs197388
rs197388
DDX20 ; INKA2 ; LOC101928718
2 0.925 0.040 1 111754860 non coding transcript exon variant A/T snv 0.27 0.010 1.000 1 2018 2018
dbSNP: rs12699251
rs12699251
THSD7A
1 1.000 0.040 7 11639486 intron variant A/G snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs10281637
rs10281637 		2 1.000 0.040 7 116511284 downstream gene variant T/C snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs2024211
rs2024211 		1 1.000 0.040 7 116512971 downstream gene variant A/C snv 0.27 0.700 1.000 1 2018 2018
dbSNP: rs12377632
rs12377632
TLR4
5 0.827 0.120 9 117710452 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs2149356
rs2149356
TLR4
14 0.742 0.360 9 117711921 intron variant T/G snv 0.54 0.010 1.000 1 2017 2017