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: rs771797724
rs771797724
DCLRE1C
1 1.000 0.040 10 14908688 missense variant T/G snv 1.6E-05 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs2243158
rs2243158
IL19
2 0.925 0.120 1 206834296 5 prime UTR variant C/A;G;T snv 0.010 1.000 1 2004 2004
dbSNP: rs2243169
rs2243169
IL19
1 1.000 0.040 1 206836189 intron variant A/G snv 4.5E-02 0.010 1.000 1 2004 2004
dbSNP: rs2243188
rs2243188
IL19 ; LOC105372878
4 0.851 0.200 1 206841127 intron variant A/C;T snv 0.69 0.010 1.000 1 2004 2004
dbSNP: rs734232
rs734232
SLC9A3R1
1 1.000 0.040 17 74769592 downstream gene variant G/A snv 0.34 0.010 < 0.001 1 2005 2005
dbSNP: rs2066844
rs2066844
NOD2
54 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 0.010 < 0.001 1 2006 2006
dbSNP: rs1805005
rs1805005
MC1R
8 0.827 0.080 16 89919436 missense variant G/T snv 8.6E-02 8.0E-02 0.010 1.000 1 2007 2007
dbSNP: rs757286802
rs757286802
ADRA1A
1 1.000 0.040 8 26864276 missense variant C/A snv 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs885479
rs885479
MC1R
16 0.732 0.280 16 89919746 missense variant G/A snv 0.15 8.3E-02 0.010 1.000 1 2007 2007
dbSNP: rs984473166
rs984473166
SSTR4
1 1.000 0.040 20 23035661 missense variant G/T snv 0.010 1.000 1 2007 2007
dbSNP: rs3134792
rs3134792
HLA-B
4 0.851 0.280 6 31344549 intron variant T/G snv 8.8E-02 0.800 1.000 2 2007 2008
dbSNP: rs1002212321
rs1002212321
RIMS2
1 1.000 0.040 8 103931366 missense variant T/C snv 0.010 1.000 1 2008 2008
dbSNP: rs11584340
rs11584340
FLG ; FLG-AS1
5 0.827 0.200 1 152313454 missense variant G/A snv 0.27 0.19 0.010 1.000 1 2008 2008
dbSNP: rs1167846
rs1167846
IL20RA
1 1.000 0.040 6 137022583 intron variant T/C snv 0.61 0.010 1.000 1 2008 2008
dbSNP: rs1167849
rs1167849
IL20RA
1 1.000 0.040 6 137027888 intron variant A/G snv 0.57 0.010 1.000 1 2008 2008
dbSNP: rs1217414
rs1217414
PTPN22 ; AP4B1-AS1
3 0.882 0.120 1 113870045 non coding transcript exon variant G/A snv 0.36 0.010 1.000 1 2008 2008
dbSNP: rs1284037740
rs1284037740
CSTA
1 1.000 0.040 3 122337642 synonymous variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs1800925
rs1800925
IL13 ; TH2LCRR
37 0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs2280714
rs2280714
TNPO3
10 0.752 0.440 7 128954671 3 prime UTR variant C/T snv 0.64 0.010 1.000 1 2008 2008
dbSNP: rs237025
rs237025
TAB2 ; SUMO4
26 0.672 0.360 6 149400554 missense variant G/A snv 0.55 0.57 0.010 < 0.001 1 2008 2008
dbSNP: rs281860350
rs281860350
HLA-B ; HLA-C
1 1.000 0.040 6 31271780 synonymous variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs3789604
rs3789604
RSBN1 ; AP4B1-AS1
9 0.776 0.360 1 113812320 synonymous variant T/A;C;G snv 8.5E-06; 1.3E-05; 0.17 0.010 1.000 1 2008 2008
dbSNP: rs3803369
rs3803369
TNFAIP8L3 ; MIR4713HG
2 0.925 0.040 15 51083632 intron variant T/A;C snv 0.010 1.000 1 2008 2008
dbSNP: rs512625
rs512625
ADAM33
2 0.925 0.120 20 3667731 upstream gene variant A/G;T snv 0.010 < 0.001 1 2008 2008
dbSNP: rs527418169
rs527418169
RIMS2 ; LOC105375688
1 1.000 0.040 8 104093501 missense variant G/A;T snv 4.4E-06; 4.4E-06 0.010 1.000 1 2008 2008