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: rs1555453538
rs1555453538
POLG ; MIR6766
7 0.807 0.280 15 89326678 frameshift variant A/- delins 0.700 1.000 3 2010 2017
dbSNP: rs1064795104
rs1064795104
EXOC6B
17 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
dbSNP: rs12185242
rs12185242
ZNF652
1 1.000 0.040 17 49329709 intron variant A/C snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs12440045
rs12440045 		6 0.925 0.080 15 41490486 upstream gene variant A/C snv 0.67 0.700 1.000 1 2019 2019
dbSNP: rs1342326
rs1342326 		9 0.790 0.360 9 6190076 intergenic variant A/C snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs1422985
rs1422985
SPINK5
2 0.925 0.120 5 148114596 intron variant A/C snv 3.2E-02 0.010 1.000 1 2010 2010
dbSNP: rs1448190
rs1448190
ANAPC1 ; LOC107985933
1 1.000 0.040 2 111618386 intron variant A/C snv 0.68 0.700 1.000 1 2019 2019
dbSNP: rs444762
rs444762
GATA3
2 0.925 0.120 10 8061297 intron variant A/C snv 0.67 0.010 1.000 1 2008 2008
dbSNP: rs62177792
rs62177792
WDPCP
1 1.000 0.040 2 63235385 intron variant A/C snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs6780220
rs6780220
GLB1
3 0.882 0.120 3 33045708 non coding transcript exon variant A/C snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs976078
rs976078 		4 0.882 0.120 13 82963398 intron variant A/C snv 0.15 0.010 1.000 1 2018 2018
dbSNP: rs1893592
rs1893592
UBASH3A
12 0.742 0.280 21 42434957 missense variant A/C;G snv 0.27; 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs6010620
rs6010620
RTEL1 ; RTEL1-TNFRSF6B
21 0.701 0.360 20 63678486 intron variant A/C;G snv 0.010 < 0.001 1 2012 2012
dbSNP: rs62162286
rs62162286
MIR4435-2HG ; SOCAR
1 1.000 0.040 2 111510863 non coding transcript exon variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs67385163
rs67385163
MLF2
1 1.000 0.040 12 6755724 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs73057087
rs73057087
GLB1 ; LOC107986073
1 1.000 0.040 3 33026776 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs940341
rs940341 		1 1.000 0.040 2 227860010 intergenic variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs1805011
rs1805011
IL4R
8 0.776 0.320 16 27362551 missense variant A/C;G;T snv 0.13; 1.2E-04; 3.6E-05 0.020 1.000 2 2013 2016
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 < 0.001 1 2013 2013
dbSNP: rs2291241
rs2291241
IKZF2
1 1.000 0.040 2 213021730 intron variant A/C;G;T snv 2.5E-05; 0.82 0.700 1.000 1 2019 2019
dbSNP: rs2228145
rs2228145
IL6R
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.710 1.000 2 2013 2019
dbSNP: rs11916411
rs11916411
UBE2E2
1 1.000 0.040 3 23526489 intron variant A/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2390314
rs2390314 		3 0.925 0.120 7 20416355 downstream gene variant A/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2303067
rs2303067
SPINK5
5 0.851 0.160 5 148101392 missense variant A/G snv 0.52 0.44 0.070 1.000 7 2004 2012
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.030 0.667 3 2011 2013