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: rs2250417
rs2250417
BCO2
5 1.000 0.080 11 112214593 intron variant T/C snv 0.44 0.800 1.000 3 2008 2013
dbSNP: rs1834481
rs1834481
IL18
5 0.882 0.160 11 112153104 non coding transcript exon variant C/G snv 0.16 0.800 1.000 1 2010 2010
dbSNP: rs2115763
rs2115763
BCO2
1 11 112180446 intron variant A/T snv 0.26 0.800 1.000 1 2010 2010
dbSNP: rs10414578
rs10414578
LILRB1
1 19 54634619 non coding transcript exon variant C/G;T snv 4.5E-06; 0.11 0.700 1.000 1 2017 2017
dbSNP: rs10891343
rs10891343
BCO2
2 11 112209661 intron variant T/C snv 0.44 0.700 1.000 1 2010 2010
dbSNP: rs11124272
rs11124272
MEMO1 ; DPY30
1 2 31917451 intron variant C/A snv 0.28 0.700 1.000 1 2017 2017
dbSNP: rs11214093
rs11214093 		1 11 112121869 intron variant C/T snv 0.37 0.700 1.000 1 2010 2010
dbSNP: rs116383510
rs116383510 		1 5 2545536 intergenic variant A/C snv 1.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs116656892
rs116656892 		1 5 68890201 intron variant T/C snv 1.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs143253577
rs143253577 		1 5 71806749 regulatory region variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs144736172
rs144736172 		1 2 31743073 intergenic variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs17229943
rs17229943
RAD17
1 5 69386709 intron variant A/C snv 4.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs192929104
rs192929104
MRPS36
1 5 69221046 intron variant G/A snv 6.5E-04 0.700 1.000 1 2017 2017
dbSNP: rs1979967
rs1979967
TMED3
1 15 79367271 intron variant C/T snv 0.25 0.700 1.000 1 2017 2017
dbSNP: rs2073316
rs2073316
XDH
2 2 31388163 intron variant G/A snv 0.42 0.700 1.000 1 2017 2017
dbSNP: rs2599510
rs2599510
BIRC6
2 2 32600935 intron variant A/G snv 0.46 0.700 1.000 1 2017 2017
dbSNP: rs35082717
rs35082717
PTS
1 11 112239368 intron variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs385076
rs385076
NLRC4
1 2 32264782 5 prime UTR variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs4482818
rs4482818 		1 4 65062779 intergenic variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs4937291
rs4937291
LINC02762 ; LOC107984388
1 11 112340657 intron variant C/A;G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs518600
rs518600
SRD5A2
1 2 31629385 intergenic variant C/T snv 0.53 0.700 1.000 1 2017 2017
dbSNP: rs658805
rs658805
COL19A1
1 6 70199369 intron variant G/A snv 0.34 0.700 1.000 1 2017 2017
dbSNP: rs6747488
rs6747488
SPAST
1 2 32086215 intron variant C/T snv 0.42 0.700 1.000 1 2017 2017
dbSNP: rs71478720
rs71478720 		1 11 112138882 intron variant C/T snv 0.16 0.700 1.000 1 2017 2017
dbSNP: rs78623212
rs78623212
RELN
1 7 103667180 intron variant C/T snv 1.5E-02 0.700 1.000 1 2017 2017