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: rs10719
rs10719
DROSHA
24 0.677 0.680 5 31401340 3 prime UTR variant A/G;T snv 0.69 0.010 1.000 1 2018 2018
dbSNP: rs11362
rs11362
DEFB1
13 0.742 0.360 8 6877877 5 prime UTR variant C/T snv 0.43 0.40 0.010 1.000 1 2014 2014
dbSNP: rs11466285
rs11466285
TGFA
5 0.851 0.200 2 70450307 3 prime UTR variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs1269636220
rs1269636220
WDR11
5 0.851 0.280 10 120865109 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs1306416169
rs1306416169
NSMF
5 0.851 0.280 9 137453808 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1487309678
rs1487309678
SEMA3A
5 0.851 0.280 7 84014246 missense variant C/T snv 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1546124
rs1546124
CRISPLD2
7 0.807 0.200 16 84838445 5 prime UTR variant G/A;C snv 8.6E-06; 0.67 0.010 1.000 1 2011 2011
dbSNP: rs17563
rs17563
BMP4
8 0.790 0.320 14 53950804 stop lost A/G snv 0.45 0.44 0.010 1.000 1 2018 2018
dbSNP: rs201002930
rs201002930
WNT10A
6 0.827 0.200 2 218889997 synonymous variant C/T snv 3.2E-05 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs2239907
rs2239907
SARM1 ; SLC46A1
5 0.851 0.200 17 28398728 3 prime UTR variant T/C snv 0.53 0.010 1.000 1 2016 2016
dbSNP: rs2269529
rs2269529
MYH9 ; MIR6819
5 0.851 0.200 22 36288308 missense variant T/C snv 0.26 0.18 0.010 1.000 1 2018 2018
dbSNP: rs3771523
rs3771523
TGFA
5 0.851 0.200 2 70450336 3 prime UTR variant C/T snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs3775261
rs3775261
MSX1
2 1.000 0.080 4 4862018 intron variant C/A snv 0.30 0.010 < 0.001 1 2013 2013
dbSNP: rs3821949
rs3821949
MSX1
2 1.000 0.080 4 4858675 upstream gene variant G/A snv 0.32 0.010 1.000 1 2011 2011
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 < 0.001 1 2012 2012
dbSNP: rs397515445
rs397515445
FGFR1
7 0.807 0.280 8 38414263 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs4783099
rs4783099
CRISPLD2
6 0.827 0.200 16 84907723 3 prime UTR variant C/T snv 0.37 0.010 1.000 1 2018 2018
dbSNP: rs4791331
rs4791331
NTN1
3 0.925 0.120 17 9028765 intron variant C/T snv 0.53 0.010 1.000 1 2020 2020
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: rs572007403
rs572007403
KISS1R
4 0.882 0.200 19 919955 missense variant C/A snv 3.3E-04 9.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs7043516
rs7043516
FOXE1
2 1.000 0.080 9 97855151 3 prime UTR variant A/C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs739439
rs739439
SARM1 ; SLC46A1
5 0.851 0.200 17 28396803 3 prime UTR variant C/T snv 0.13 0.010 1.000 1 2016 2016
dbSNP: rs7650466
rs7650466
EPHA3
7 0.851 0.200 3 89481208 3 prime UTR variant C/T snv 0.23 0.010 1.000 1 2018 2018
dbSNP: rs12532
rs12532
MSX1
10 0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36 0.020 0.500 2 2011 2013