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: 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: rs2326398
rs2326398
CRISPLD2
5 0.827 0.200 16 84869111 intron variant A/G snv 0.37 0.010 1.000 1 2011 2011
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 2011 2011
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: rs756518905
rs756518905
AP2A1
1 1.000 19 49782722 splice region variant C/T snv 9.3E-05 3.5E-05 0.010 1.000 1 2011 2011
dbSNP: rs758551492
rs758551492
TFAP2A ; TFAP2A-AS2
1 1.000 6 10406842 missense variant A/G snv 4.0E-06 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs8061351
rs8061351
CRISPLD2
1 1.000 16 84849496 synonymous variant C/T snv 4.0E-06; 0.70 0.61 0.010 1.000 1 2011 2011
dbSNP: rs3832406
rs3832406
MTHFD1L
3 0.925 6 150898848 intron variant -/A;ATA;ATTATG ins 5.8E-05; 4.3E-05 2.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs475202
rs475202 		1 1.000 13 68578880 intergenic variant T/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs6576618
rs6576618
GABRB3
1 1.000 15 26799458 intron variant A/C snv 0.59 0.010 1.000 1 2013 2013
dbSNP: rs6659735
rs6659735
PAX7
1 1.000 1 18657203 intron variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs981778
rs981778
GABRB3
1 1.000 15 26712093 intron variant G/A snv 0.32 0.010 1.000 1 2013 2013
dbSNP: rs2274976
rs2274976
MTHFR
7 0.807 0.320 1 11790870 missense variant C/T snv 5.6E-02 4.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2015 2015
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: rs17563
rs17563
BMP4
8 0.790 0.320 14 53950804 stop lost A/G snv 0.45 0.44 0.010 1.000 1 2017 2017
dbSNP: rs12532
rs12532
MSX1
10 0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36 0.010 1.000 1 2018 2018
dbSNP: rs1258763
rs1258763 		2 0.925 0.080 15 32758222 intergenic variant C/T snv 0.60 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: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2018 2018
dbSNP: rs3121310
rs3121310
WNT3A
1 1.000 1 228037123 intron variant A/G snv 0.61 0.010 1.000 1 2018 2018
dbSNP: rs3809857
rs3809857
WNT3 ; LRRC37A2
1 1.000 17 46770948 intron variant G/T snv 0.25 0.010 1.000 1 2018 2018
dbSNP: rs7552
rs7552
CYRIA
3 0.882 0.120 2 16552660 splice region variant A/G snv 0.44 0.010 1.000 1 2018 2018
dbSNP: rs9890413
rs9890413
WNT3 ; LRRC37A2
1 1.000 17 46824083 intron variant G/A snv 0.63 0.010 1.000 1 2018 2018
dbSNP: rs1972041
rs1972041
TPM1
1 1.000 15 63068648 intron variant T/C snv 0.59 0.010 1.000 1 2019 2019