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: rs10130587
rs10130587
BMP4
5 0.851 0.200 14 53952392 intron variant G/C snv 0.45 0.010 1.000 1 2018 2018
dbSNP: rs1139
rs1139
ZNF385B
4 0.851 0.200 2 179745354 intron variant C/T snv 0.22 0.010 1.000 1 2011 2011
dbSNP: rs197204
rs197204
MCUB
4 0.851 0.200 4 109576918 intron variant C/G snv 0.52 0.010 1.000 1 2016 2016
dbSNP: rs2076056
rs2076056
JARID2
3 0.882 0.200 6 15487551 intron variant C/A;G;T snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs2235375
rs2235375
IRF6
7 0.807 0.400 1 209792242 intron variant G/A;C;T snv 3.2E-05; 0.41; 4.3E-04 0.010 1.000 1 2018 2018
dbSNP: rs2237138
rs2237138
JARID2
3 0.882 0.200 6 15463164 intron variant T/C snv 0.22 0.010 1.000 1 2017 2017
dbSNP: rs227493
rs227493 		3 0.882 0.200 6 165071698 intron variant A/T snv 1.7E-02 0.010 1.000 1 2018 2018
dbSNP: rs2326398
rs2326398
CRISPLD2
5 0.827 0.200 16 84869111 intron variant A/G snv 0.37 0.010 1.000 1 2017 2017
dbSNP: rs3905385
rs3905385
ROR2
3 0.882 0.200 9 91906451 intron variant T/C snv 0.23 0.010 1.000 1 2012 2012
dbSNP: rs4752028
rs4752028
SHTN1
6 0.807 0.200 10 117075480 intron variant C/T snv 0.73 0.010 1.000 1 2019 2019
dbSNP: rs493760
rs493760
DROSHA
5 0.851 0.200 5 31436933 intron variant C/T snv 0.74 0.010 1.000 1 2018 2018
dbSNP: rs560426
rs560426
ABCA4
5 0.851 0.200 1 94087882 intron variant C/T snv 0.53 0.010 < 0.001 1 2010 2010
dbSNP: rs6757845
rs6757845
ZNF385B
4 0.851 0.200 2 179449268 intron variant T/C snv 0.66 0.010 1.000 1 2011 2011
dbSNP: rs642961
rs642961 		14 0.732 0.440 1 209815925 intergenic variant A/G snv 0.84 0.020 1.000 2 2010 2014
dbSNP: rs13041247
rs13041247
LOC102724968
5 0.851 0.200 20 40640434 regulatory region variant T/C snv 0.36 0.010 < 0.001 1 2010 2010
dbSNP: rs1553547838
rs1553547838
SATB2
4 0.925 0.280 2 199328709 stop gained G/A snv 0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
45 0.701 0.400 12 47983399 stop gained T/A snv 0.700 0
dbSNP: rs200203460
rs200203460
CLPB
9 0.776 0.400 11 72302312 stop gained G/A;C;T snv 2.8E-05 0.700 0
dbSNP: rs387907141
rs387907141
ARID1B
24 0.752 0.360 6 157181137 stop gained C/T snv 0.700 0
dbSNP: rs587783446
rs587783446
CHD7
19 0.763 0.280 8 60850546 stop gained C/T snv 0.700 0
dbSNP: rs61749721
rs61749721
MECP2
17 0.732 0.200 X 154031065 stop gained G/A snv 0.700 0
dbSNP: rs77078070
rs77078070
KLHL7
26 0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs786205508
rs786205508
MKS1
5 0.851 0.200 17 58208542 stop gained G/A snv 0.700 0
dbSNP: rs2235371
rs2235371
IRF6
11 0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02 0.030 1.000 3 2009 2019
dbSNP: rs41268753
rs41268753
GRHL3
3 0.882 0.200 1 24342967 missense variant C/T snv 2.3E-02 2.3E-02 0.030 0.667 3 2016 2018