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: rs12721593
rs12721593
NBN
1 1.000 0.120 8 89981417 missense variant G/A snv 5.8E-04 1.2E-04 0.700 0
dbSNP: rs61753720
rs61753720
NBN
3 1.000 0.120 8 89981412 missense variant C/A;G;T snv 1.7E-03 1.8E-03 0.700 0
dbSNP: rs569954362
rs569954362
SLC19A1
4 0.851 0.160 21 45530871 synonymous variant G/A snv 0.010 1.000 1 2001 2001
dbSNP: rs57725551
rs57725551
SLC19A1 ; LOC107987304
3 0.882 0.120 21 45525868 synonymous variant G/T snv 5.3E-03 7.0E-03 0.010 1.000 1 2001 2001
dbSNP: rs199474387
rs199474387
HLA-A
6 0.807 0.240 6 29942870 missense variant G/C;T snv 0.010 1.000 1 2002 2002
dbSNP: rs140422742
rs140422742
CYP3A4
3 0.882 0.120 7 99778046 missense variant T/C;G snv 7.6E-05 6.3E-05 0.010 1.000 1 2004 2004
dbSNP: rs368005287
rs368005287
CYP3A4
3 0.882 0.120 7 99762071 stop gained C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs72481843
rs72481843
NR3C1
3 0.882 0.120 5 143300685 splice donor variant C/G snv 0.010 1.000 1 2004 2004
dbSNP: rs104893636
rs104893636
HOXD3 ; HOXD4
3 0.882 0.120 2 176151875 missense variant A/C;T snv 5.2E-06; 7.9E-04 0.010 1.000 1 2005 2005
dbSNP: rs111033563
rs111033563
HFE ; LOC108783645
8 0.776 0.240 6 26092916 missense variant A/C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs35201683
rs35201683
HFE
12 0.732 0.360 6 26094205 stop gained C/A;T snv 1.4E-03 0.010 1.000 1 2005 2005
dbSNP: rs780246573
rs780246573
HFE ; LOC108783645
12 0.732 0.360 6 26092860 stop gained C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs797045145
rs797045145
HFE ; LOC108783645
6 0.807 0.240 6 26091479 stop gained G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs80338880
rs80338880
TFR2
12 0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs34767364
rs34767364
NBN
20 0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03 0.020 1.000 2 2001 2006
dbSNP: rs1169704167
rs1169704167
ATM
3 0.882 0.120 11 108284370 frameshift variant -/T delins 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1296957097
rs1296957097
CHEK2
3 0.882 0.120 22 28719401 missense variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs1482545954
rs1482545954
NLRP2
3 0.882 0.120 19 54982407 missense variant C/T snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs200928781
rs200928781
CHEK2
11 0.752 0.240 22 28695800 missense variant T/A;C;G snv 2.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs35947132
rs35947132
PRF1
10 0.776 0.280 10 70600631 missense variant G/A snv 2.9E-02 2.9E-02 0.010 1.000 1 2006 2006
dbSNP: rs587781823
rs587781823
ATM
5 0.851 0.280 11 108284370 frameshift variant -/T delins 0.010 1.000 1 2006 2006
dbSNP: rs770998368
rs770998368
ERCC5 ; BIVM-ERCC5
5 0.827 0.240 13 102861511 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs11099592
rs11099592
HPSE
5 0.851 0.160 4 83309466 missense variant T/C snv 0.78 0.80 0.010 1.000 1 2007 2007
dbSNP: rs1164376164
rs1164376164
ABCB1
6 0.851 0.200 7 87601024 5 prime UTR variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 < 0.001 1 2007 2007