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: rs371856018
rs371856018
MPZ
5 0.882 0.120 1 161307376 missense variant T/C;G snv 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs9357271
rs9357271
BTBD9
8 0.776 0.160 6 38398097 intron variant T/C snv 0.38 0.880 1.000 11 2007 2019
dbSNP: rs2300478
rs2300478
MEIS1
6 0.851 0.120 2 66554321 intron variant T/G snv 0.21 0.820 1.000 4 2007 2016
dbSNP: rs3923809
rs3923809
BTBD9
1 1.000 0.080 6 38473194 intron variant A/G snv 0.32 0.820 1.000 4 2007 2017
dbSNP: rs1026732
rs1026732
MAP2K5
1 1.000 0.080 15 67802747 intron variant G/A snv 0.38 0.720 1.000 3 2007 2018
dbSNP: rs12593813
rs12593813
MAP2K5
2 1.000 0.080 15 67744514 intron variant A/G snv 0.53 0.810 1.000 3 2007 2018
dbSNP: rs9296249
rs9296249
BTBD9
3 0.882 0.120 6 38398065 intron variant T/C snv 0.30 0.820 1.000 3 2007 2017
dbSNP: rs11635424
rs11635424
MAP2K5
1 1.000 0.080 15 67745240 intron variant A/G snv 0.53 0.710 1.000 2 2007 2018
dbSNP: rs3784709
rs3784709
MAP2K5
1 1.000 0.080 15 67779937 intron variant C/T snv 0.36 0.710 1.000 2 2007 2018
dbSNP: rs4489954
rs4489954
MAP2K5
1 1.000 0.080 15 67779737 intron variant T/A;G snv 0.710 1.000 2 2007 2018
dbSNP: rs6494696
rs6494696 		1 1.000 0.080 15 67810868 downstream gene variant G/A;C snv 0.710 1.000 2 2007 2017
dbSNP: rs12469063
rs12469063
MEIS1
2 0.925 0.080 2 66537176 intron variant A/G snv 0.18 0.700 1.000 1 2007 2007
dbSNP: rs1983167
rs1983167 		1 1.000 0.080 X 42989135 regulatory region variant T/C snv 0.700 1.000 1 2007 2007
dbSNP: rs4236060
rs4236060
BTBD9
1 1.000 0.080 6 38502311 intron variant C/T snv 0.22 0.700 1.000 1 2007 2007
dbSNP: rs4714156
rs4714156
BTBD9
2 0.925 0.120 6 38393336 intron variant C/T snv 0.36 0.700 1.000 1 2007 2007
dbSNP: rs6904723
rs6904723
BTBD9
1 1.000 0.080 6 38468541 intron variant A/C;T snv 0.700 1.000 1 2007 2007
dbSNP: rs6923737
rs6923737
BTBD9
1 1.000 0.080 6 38515788 intron variant T/C snv 0.28 0.700 1.000 1 2007 2007
dbSNP: rs7881785
rs7881785 		1 1.000 0.080 X 42995357 upstream gene variant A/G snv 0.700 1.000 1 2007 2007
dbSNP: rs1975197
rs1975197
PTPRD
1 1.000 0.080 9 8846955 intron variant G/A snv 0.16 0.810 1.000 3 2008 2011
dbSNP: rs4626664
rs4626664
PTPRD
1 1.000 0.080 9 9261737 intron variant G/A snv 0.20 0.820 1.000 3 2008 2014
dbSNP: rs35041767
rs35041767
PTPRD
1 1.000 0.080 9 9261737 intron variant -/C ins 0.700 1.000 1 2008 2008
dbSNP: rs3104767
rs3104767
CASC16
2 0.925 0.080 16 52590826 intron variant G/T snv 0.49 0.840 1.000 4 2011 2020
dbSNP: rs138915427
rs138915427
PTPRD
1 1.000 0.080 9 8341723 missense variant C/A;G;T snv 4.0E-06; 2.0E-05; 2.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs6747972
rs6747972 		1 1.000 0.080 2 67843093 intergenic variant A/G snv 0.65 0.810 1.000 1 2011 2011
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.030 0.667 3 2013 2019