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: rs371074389
rs371074389
CXCR4 ; LOC112268426
16 0.732 0.320 2 136115226 synonymous variant C/T snv 4.0E-06 4.2E-05 0.010 1.000 1 2001 2001
dbSNP: rs766914563
rs766914563
CXCR4 ; LOC112268426
16 0.732 0.320 2 136115082 synonymous variant C/T snv 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs781172058
rs781172058
CXCR4
16 0.732 0.320 2 136115340 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs1284566036
rs1284566036
GGT1
1 1.000 0.120 22 24615074 missense variant C/T snv 1.4E-05 0.010 1.000 1 2002 2002
dbSNP: rs1303328174
rs1303328174
GCG ; LOC101929532
1 1.000 0.120 2 162144042 missense variant G/T snv 0.010 1.000 1 2002 2002
dbSNP: rs1428168076
rs1428168076
CAT
1 1.000 0.120 11 34452152 missense variant A/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1460874866
rs1460874866
SERPINA1
1 1.000 0.120 14 94382987 missense variant G/A snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs375960284
rs375960284
GCG ; LOC101929532
1 1.000 0.120 2 162145570 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs5650
rs5650
GCG ; LOC101929532
1 1.000 0.120 2 162145588 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs754246590
rs754246590
SERPINA3
1 1.000 0.120 14 94614689 missense variant C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs17879469
rs17879469
HLA-DRB1
9 0.763 0.360 6 32584333 missense variant C/G snv 1.3E-05 0.030 1.000 3 1998 2003
dbSNP: rs1167204443
rs1167204443
GAD1
3 0.882 0.160 2 170829475 missense variant G/C snv 4.0E-06 1.4E-05 0.020 0.500 2 1999 2003
dbSNP: rs8192556
rs8192556
NEUROD1 ; CERKL
2 0.925 0.120 2 181678271 missense variant G/T snv 1.9E-02 1.6E-02 0.020 0.500 2 2000 2003
dbSNP: rs2229080
rs2229080
DCC
16 0.742 0.320 18 52906232 missense variant C/A;G snv 0.45 0.010 < 0.001 1 2003 2003
dbSNP: rs1801278
rs1801278
IRS1
38 0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02 0.030 1.000 3 2003 2004
dbSNP: rs11547328
rs11547328
CDK4
27 0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs2233578
rs2233578
PAX4
2 0.925 0.120 7 127614497 missense variant G/A;T snv 7.0E-03; 4.5E-06 0.010 1.000 1 2004 2004
dbSNP: rs4866
rs4866
NUDT1
5 0.827 0.240 7 2249951 missense variant G/A snv 2.2E-02 1.8E-02 0.010 1.000 1 2004 2004
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs760160309
rs760160309
SUMO2
1 1.000 0.120 17 75174814 missense variant T/C snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs777334819
rs777334819
PPARG
2 0.925 0.120 3 12379856 missense variant G/A snv 3.6E-05 2.1E-05 0.010 < 0.001 1 2004 2004
dbSNP: rs1801262
rs1801262
NEUROD1 ; CERKL
4 0.882 0.120 2 181678728 missense variant T/C snv 0.70 0.68 0.090 0.778 9 1999 2005
dbSNP: rs147582772
rs147582772
TBP
1 1.000 0.120 6 170569765 synonymous variant C/T snv 1.6E-05 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 0.667 3 1999 2006
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.020 1.000 2 2004 2006