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: rs10415622
rs10415622
SLC39A3
1 1.000 19 2739698 intron variant A/G snv 0.45 0.010 1.000 1 2010 2010
dbSNP: rs4806874
rs4806874
SLC39A3
1 1.000 19 2738354 intron variant A/C;G;T snv 0.010 1.000 1 2010 2010
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: rs3809857
rs3809857
WNT3 ; LRRC37A2
1 1.000 17 46770948 intron variant G/T snv 0.25 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: rs1546124
rs1546124
CRISPLD2
7 0.807 0.200 16 84838445 5 prime UTR variant G/A;C snv 8.6E-06; 0.67 0.020 1.000 2 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: 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: rs1258763
rs1258763 		2 0.925 0.080 15 32758222 intergenic variant C/T snv 0.60 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
dbSNP: rs2453531
rs2453531
SLC30A4
1 1.000 15 45487612 synonymous variant G/A snv 0.71 0.75 0.010 1.000 1 2010 2010
dbSNP: rs6576618
rs6576618
GABRB3
1 1.000 15 26799458 intron variant A/C snv 0.59 0.010 1.000 1 2013 2013
dbSNP: rs8029246
rs8029246
HMGN2P46
1 1.000 15 45528960 intron variant G/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs981778
rs981778
GABRB3
1 1.000 15 26712093 intron variant G/A snv 0.32 0.010 1.000 1 2013 2013
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: rs2236225
rs2236225
MTHFD1
52 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.010 1.000 1 2008 2008
dbSNP: rs475202
rs475202 		1 1.000 13 68578880 intergenic variant T/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs726455
rs726455
SOX1-OT
1 1.000 13 111997186 intergenic variant C/A;G;T snv 0.010 1.000 1 2006 2006
dbSNP: rs951095
rs951095
LOC107984606 ; LOC107984607
1 1.000 13 104826293 intergenic variant C/T snv 0.38 0.010 1.000 1 2006 2006
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2008 2008
dbSNP: rs1036980234
rs1036980234
PTCH1
6 0.827 0.160 9 95447156 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs2066836
rs2066836
PTCH1
1 1.000 9 95476076 synonymous variant G/A snv 0.17 0.15 0.010 1.000 1 2010 2010
dbSNP: rs357564
rs357564
PTCH1
6 0.827 0.160 9 95447312 missense variant G/A;C;T snv 0.39; 1.2E-05; 4.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2009 2009