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: rs113624356
rs113624356
BBS1 ; ZDHHC24
22 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.700 0
dbSNP: rs113993959
rs113993959
CFTR
25 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.700 0
dbSNP: rs1178187217
rs1178187217
DNAH11
38 0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 0.700 0
dbSNP: rs1294950721
rs1294950721
JAG1
27 0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 0.700 0
dbSNP: rs137854539
rs137854539
GNAS
28 0.716 0.520 20 58903703 missense variant C/T snv 0.700 0
dbSNP: rs1441937959
rs1441937959
EFL1
20 0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06 0.700 0
dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
45 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
dbSNP: rs1555549674
rs1555549674
STAT5B
6 0.882 0.240 17 42223402 missense variant T/G snv 0.700 0
dbSNP: rs201943194
rs201943194
DNAH11
38 0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05 0.700 0
dbSNP: rs559979281
rs559979281
CLASP1 ; RNU4ATAC ; LOC107985942
23 0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04 0.700 0
dbSNP: rs74597325
rs74597325
CFTR
18 0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 0.700 0
dbSNP: rs80359473
rs80359473
BRCA2
12 0.807 0.400 13 32339288 frameshift variant GAAA/- delins 0.700 0
dbSNP: rs863225422
rs863225422
CLASP1 ; RNU4ATAC ; LOC107985942
23 0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 0.700 0
dbSNP: rs866294686
rs866294686
TRIM8 ; LOC105378460
43 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
dbSNP: rs869312169
rs869312169
DOCK8
3 0.925 0.080 9 452067 frameshift variant -/T delins 0.700 0
dbSNP: rs5743708
rs5743708
TLR2
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.020 < 0.001 2 2015 2017
dbSNP: rs953038635
rs953038635
SOD2
51 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 0.020 < 0.001 2 2004 2006
dbSNP: rs10917661
rs10917661
FCGR2B
3 0.882 0.160 1 161671427 stop gained C/T snv 2.8E-05 0.010 < 0.001 1 2014 2014
dbSNP: rs1264774973
rs1264774973
PTGDR
1 1.000 0.080 14 52268255 synonymous variant C/T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs1300030496
rs1300030496
KIDINS220
1 1.000 0.080 2 8731757 missense variant T/G snv 4.0E-06 0.010 < 0.001 1 1998 1998
dbSNP: rs1411351750
rs1411351750
CCL11
1 1.000 0.080 17 34285859 synonymous variant C/T snv 4.0E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs17772583
rs17772583
RAD50
2 0.925 0.120 5 132617818 intron variant A/G snv 0.18 0.010 < 0.001 1 2016 2016
dbSNP: rs1872387
rs1872387
LOC105373640
2 0.925 0.120 2 138964859 intron variant G/C snv 0.55 0.010 < 0.001 1 2014 2014
dbSNP: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 < 0.001 1 2017 2017
dbSNP: rs2028373
rs2028373
AICDA
1 1.000 0.080 12 8604885 missense variant G/A;T snv 0.60 0.010 < 0.001 1 2004 2004