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: rs1060502990
rs1060502990
TERT
2 0.925 0.040 5 1294549 frameshift variant -/G delins 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: rs1554038257
rs1554038257
TERT
2 0.925 0.040 5 1255333 frameshift variant GA/- delins 0.700 0
dbSNP: rs1554042899
rs1554042899
TERT
2 0.925 0.040 5 1293837 frameshift variant AG/- delins 0.700 0
dbSNP: rs1554043139
rs1554043139
TERT
2 0.925 0.040 5 1294810 stop gained C/G;T snv 0.700 0
dbSNP: rs1555899640
rs1555899640
RTEL1 ; RTEL1-TNFRSF6B
1 1.000 0.040 20 63661935 frameshift variant TC/- delins 0.700 0
dbSNP: rs199422294
rs199422294
TERT
5 0.827 0.160 5 1280216 missense variant C/T snv 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: rs1800730
rs1800730
HFE ; LOC108783645
32 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs2070600
rs2070600
AGER
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.020 0.500 2 2017 2017
dbSNP: rs11568819
rs11568819
MMP7
2 1.000 0.040 11 102530902 upstream gene variant G/A snv 5.5E-02 0.010 1.000 1 2012 2012
dbSNP: rs5743890
rs5743890
TOLLIP
4 0.925 0.040 11 1304599 intron variant T/C snv 9.7E-02 0.830 1.000 3 2013 2019
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2015 2015
dbSNP: rs111521887
rs111521887
TOLLIP
1 1.000 0.040 11 1291476 intron variant C/G snv 0.12 0.700 1.000 1 2013 2013
dbSNP: rs5029939
rs5029939
TNFAIP3
19 0.701 0.440 6 137874586 intron variant C/G snv 0.13 0.010 1.000 1 2010 2010
dbSNP: rs12602273
rs12602273
TP53
4 0.851 0.080 17 7679695 intron variant C/G snv 0.15 0.010 1.000 1 2012 2012
dbSNP: rs62025270
rs62025270
LOC101929679
1 1.000 0.040 15 85756967 upstream gene variant G/A snv 0.17 0.710 1.000 1 2017 2017
dbSNP: rs17690703
rs17690703
MAPT-AS1
4 0.882 0.160 17 45847931 intron variant C/T snv 0.18 0.800 1.000 1 2013 2013
dbSNP: rs2075800
rs2075800
HSPA1L
8 0.776 0.440 6 31810169 missense variant C/T snv 0.32 0.25 0.010 1.000 1 2015 2015
dbSNP: rs1881984
rs1881984 		1 1.000 0.040 3 169746671 intergenic variant A/G snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs2227306
rs2227306
CXCL8
21 0.677 0.680 4 73741338 intron variant C/T snv 0.31 0.010 1.000 1 2011 2011
dbSNP: rs28673968
rs28673968
LOC105377329
1 1.000 0.040 4 89655739 intron variant T/C snv 0.37 0.700 1.000 1 2017 2017
dbSNP: rs3750920
rs3750920
TOLLIP
7 0.807 0.120 11 1288726 synonymous variant C/T snv 0.40 0.38 0.010 1.000 1 2015 2015
dbSNP: rs733590
rs733590
CDKN1A ; DINOL
3 0.882 0.120 6 36677426 intron variant T/C snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs8182352
rs8182352 		5 0.827 0.160 17 5651667 intergenic variant T/C snv 0.44 0.010 1.000 1 2011 2011