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: rs6739779
rs6739779 		3 0.882 0.040 2 16299921 intron variant C/T snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs7335046
rs7335046 		7 0.807 0.040 13 99389484 downstream gene variant G/C snv 0.80 0.700 1.000 1 2011 2011
dbSNP: rs7563677
rs7563677 		3 0.882 0.040 2 160500206 intergenic variant C/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs75790006
rs75790006 		4 0.851 0.040 4 43211547 intron variant T/G snv 1.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs7907606
rs7907606 		8 0.790 0.120 10 103920874 upstream gene variant T/G snv 0.26 0.700 1.000 1 2016 2016
dbSNP: rs79522206
rs79522206 		3 0.882 0.040 2 7564729 intergenic variant G/A snv 2.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs9267650
rs9267650 		3 0.882 0.040 6 31857135 downstream gene variant A/T snv 6.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs1765871
rs1765871
ATP11A
3 0.882 0.040 13 112879337 intron variant C/A snv 0.53 0.700 1.000 1 2019 2019
dbSNP: rs6908626
rs6908626
BACH2 ; LOC105377891
3 0.882 0.040 6 90296024 intron variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs7328654
rs7328654
BRCA2
3 0.882 0.040 13 32380424 intron variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2294214
rs2294214
CASC15
6 0.882 0.040 6 22056694 splice region variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs55775505
rs55775505
CASC15
3 0.882 0.040 6 22057337 intron variant C/A;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs3769823
rs3769823
CASP8
6 0.851 0.040 2 201258272 missense variant A/G snv 0.66 0.65 0.700 1.000 1 2017 2017
dbSNP: rs663743
rs663743
CCDC88B ; LOC102723878
5 0.827 0.120 11 64340263 5 prime UTR variant G/A snv 0.33 0.25 0.700 1.000 1 2019 2019
dbSNP: rs2151280
rs2151280
CDKN2B-AS1
16 0.701 0.360 9 22034720 non coding transcript exon variant G/A snv 0.46 0.700 1.000 2 2014 2015
dbSNP: rs7874604
rs7874604
CDKN2B-AS1
3 0.882 0.040 9 22054691 intron variant T/C snv 0.58 0.700 1.000 2 2016 2019
dbSNP: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.700 1.000 3 2009 2015
dbSNP: rs421284
rs421284
CLPTM1L
3 0.882 0.040 5 1325475 non coding transcript exon variant T/C;G snv 0.700 1.000 2 2016 2019
dbSNP: rs13261635
rs13261635
COLEC10 ; LOC101927513
3 0.882 0.040 8 119070732 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs117744081
rs117744081
CPVL
4 0.851 0.080 7 29092663 missense variant A/G snv 2.2E-02 2.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs2289702
rs2289702
CTSH
4 0.851 0.120 15 78944951 missense variant C/T snv 9.3E-02 7.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs41271951
rs41271951
CTSS
4 0.882 0.040 1 150764744 missense variant A/G snv 5.1E-02 5.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs1800440
rs1800440
CYP1B1
29 0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs10896064
rs10896064
EFEMP2
3 0.882 0.040 11 65873562 5 prime UTR variant G/C snv 0.45 0.700 1.000 1 2019 2019
dbSNP: rs4149909
rs4149909
EXO1
3 0.882 0.040 1 241860596 missense variant A/G;T snv 2.4E-02; 4.0E-06 0.700 1.000 1 2019 2019