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: rs1805008
rs1805008
MC1R
16 0.732 0.240 16 89919736 missense variant C/T snv 4.7E-02 4.8E-02 0.010 1.000 1 2008 2008
dbSNP: rs2269577
rs2269577
XBP1 ; ZNRF3
4 0.882 0.120 22 28800769 non coding transcript exon variant G/C snv 0.40 0.010 1.000 1 2009 2009
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 < 0.001 1 2009 2009
dbSNP: rs10484554
rs10484554
HLA-B ; LOC112267902
11 0.807 0.200 6 31306778 intron variant C/T snv 0.12 0.700 1.000 1 2010 2010
dbSNP: rs1079541
rs1079541 		1 1.000 0.040 6 30438979 intergenic variant C/A snv 0.17 0.700 1.000 1 2010 2010
dbSNP: rs11593576
rs11593576
ZMIZ1
2 0.925 0.040 10 79256139 intron variant C/T snv 0.29 0.800 1.000 1 2010 2010
dbSNP: rs11964542
rs11964542
TRIM31 ; TRIM31-AS1
1 1.000 0.040 6 30103983 non coding transcript exon variant T/C snv 7.2E-02 0.700 1.000 1 2010 2010
dbSNP: rs11966619
rs11966619
LOC105375012
1 1.000 0.040 6 30461256 intergenic variant T/G snv 0.17 0.700 1.000 1 2010 2010
dbSNP: rs11967808
rs11967808
TRIM26
1 1.000 0.040 6 30211411 intron variant G/C snv 3.2E-02 0.700 1.000 1 2010 2010
dbSNP: rs12153855
rs12153855
TNXB
11 0.776 0.320 6 32107027 intron variant T/C snv 0.11 0.700 1.000 1 2010 2010
dbSNP: rs12198173
rs12198173
TNXB
9 0.827 0.240 6 32059031 intron variant G/A snv 0.10 0.700 1.000 1 2010 2010
dbSNP: rs12201301
rs12201301 		1 1.000 0.040 6 31039780 downstream gene variant G/A snv 2.7E-02 0.700 1.000 1 2010 2010
dbSNP: rs12206131
rs12206131
LINC01149
1 1.000 0.040 6 31446233 non coding transcript exon variant A/G snv 1.8E-02 0.700 1.000 1 2010 2010
dbSNP: rs1264350
rs1264350
LINC00243
2 0.925 0.160 6 30828768 intron variant T/C snv 9.4E-02 0.700 1.000 1 2010 2010
dbSNP: rs1264377
rs1264377 		1 1.000 0.040 6 30797130 downstream gene variant G/A snv 0.13 0.700 1.000 1 2010 2010
dbSNP: rs1265159
rs1265159
POU5F1
3 0.882 0.240 6 31172270 intron variant G/A snv 0.21 0.700 1.000 1 2010 2010
dbSNP: rs1265181
rs1265181
PSORS1C3
2 0.925 0.040 6 31188008 intergenic variant G/C snv 0.15 0.700 1.000 1 2010 2010
dbSNP: rs130065
rs130065
CCHCR1
2 0.925 0.120 6 31154723 missense variant G/A snv 0.15 0.16 0.700 1.000 1 2010 2010
dbSNP: rs13091753
rs13091753
LPP
2 1.000 0.040 3 188396801 intron variant G/C;T snv 0.700 1.000 1 2010 2010
dbSNP: rs13118
rs13118
NEU1
1 1.000 0.040 6 31859509 3 prime UTR variant A/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs13199524
rs13199524
TNXB
9 0.807 0.240 6 32098988 intron variant C/T snv 8.4E-02 0.700 1.000 1 2010 2010
dbSNP: rs13204672
rs13204672 		1 1.000 0.040 6 32615019 intergenic variant A/G snv 0.12 0.700 1.000 1 2010 2010
dbSNP: rs13211318
rs13211318 		5 0.925 0.040 6 32134903 upstream gene variant A/C snv 0.11 0.700 1.000 1 2010 2010
dbSNP: rs1534284
rs1534284
PFDN5 ; C12orf10 ; LOC112268097
2 0.925 0.040 12 53299748 missense variant A/G;T snv 0.99; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1548514
rs1548514 		1 1.000 0.040 6 30419691 downstream gene variant G/A;C;T snv 0.700 1.000 1 2010 2010