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: rs142433332
rs142433332
DARS2
14 0.807 0.160 1 173831632 splice donor variant T/A;C;G snv 8.0E-06; 3.3E-04; 4.0E-06 0.700 0
dbSNP: rs1553201258
rs1553201258
DARS2
14 0.807 0.160 1 173828312 non coding transcript exon variant TT/C delins 0.700 0
dbSNP: rs1555487316
rs1555487316
UMOD
5 0.882 0.240 16 20348247 missense variant A/C snv 0.700 0
dbSNP: rs17074636
rs17074636 		2 0.925 0.120 4 183356978 regulatory region variant T/G snv 4.2E-02 0.800 1.000 1 2013 2013
dbSNP: rs2168303
rs2168303 		2 0.925 0.120 18 60708701 intron variant A/G snv 2.9E-02 0.800 1.000 1 2013 2013
dbSNP: rs3135753
rs3135753
FGFR2
2 0.925 0.120 10 121521144 intron variant T/C snv 4.0E-03 0.800 1.000 1 2013 2013
dbSNP: rs10001632
rs10001632
CLNK ; LOC105374482
2 0.925 0.120 4 10520247 intron variant A/C snv 0.97 0.700 1.000 1 2013 2013
dbSNP: rs10007469
rs10007469 		2 0.925 0.120 4 9731119 upstream gene variant G/A;C;T snv 0.700 1.000 1 2010 2010
dbSNP: rs10017447
rs10017447 		3 0.925 0.120 4 10173912 regulatory region variant C/A snv 0.67 0.700 1.000 1 2010 2010
dbSNP: rs10020053
rs10020053
SLC2A9
2 0.925 0.120 4 9820024 intron variant T/C snv 0.54 0.700 1.000 1 2010 2010
dbSNP: rs10023457
rs10023457
ABCG2
2 0.925 0.120 4 88213552 intron variant T/A snv 0.38 0.700 1.000 1 2013 2013
dbSNP: rs10024152
rs10024152 		3 0.925 0.120 4 10174065 regulatory region variant A/T snv 0.68 0.700 1.000 1 2010 2010
dbSNP: rs10030521
rs10030521
CLNK
3 0.925 0.120 4 10534793 intron variant C/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs10032109
rs10032109
ABCG2
2 0.925 0.120 4 88230911 intron variant C/T snv 0.15 0.700 1.000 1 2013 2013
dbSNP: rs10034405
rs10034405 		3 0.925 0.120 4 10172072 upstream gene variant A/G snv 0.14 0.700 1.000 1 2010 2010
dbSNP: rs10049659
rs10049659 		2 0.925 0.120 4 9585140 intron variant C/T snv 0.28 0.700 1.000 1 2013 2013
dbSNP: rs1007212
rs1007212
IGF1R
2 0.925 0.120 15 98740689 intron variant G/A snv 0.64 0.700 1.000 1 2013 2013
dbSNP: rs10087208
rs10087208 		2 0.925 0.120 8 75850145 intergenic variant G/A snv 0.66 0.700 1.000 1 2013 2013
dbSNP: rs10128590
rs10128590
NRXN2
2 0.925 0.120 11 64681953 intron variant G/A snv 0.26 0.700 1.000 1 2013 2013
dbSNP: rs1014064
rs1014064
ACVR2A
2 0.925 0.120 2 147854585 intron variant A/G snv 0.32 0.700 1.000 1 2013 2013
dbSNP: rs1015096
rs1015096
MBD5
2 0.925 0.120 2 148024789 intron variant T/C snv 0.33 0.700 1.000 1 2013 2013
dbSNP: rs10155145
rs10155145 		2 0.925 0.120 4 10127176 intergenic variant C/T snv 0.13 0.700 1.000 1 2013 2013
dbSNP: rs10223506
rs10223506 		3 0.925 0.120 6 25626988 regulatory region variant T/A;G snv 0.700 1.000 1 2013 2013
dbSNP: rs10225163
rs10225163
JAZF1
2 0.925 0.120 7 27886026 intron variant C/G snv 0.53 0.700 1.000 1 2012 2012
dbSNP: rs1023945
rs1023945
CD160
2 0.925 0.120 1 145731972 intron variant G/A snv 0.55 0.700 1.000 1 2013 2013