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: rs104895033
rs104895033
NBN
2 0.925 0.080 8 89955478 missense variant G/A;C;T snv 4.0E-06; 6.4E-05 0.010 1.000 1 2020 2020
dbSNP: rs1333049
rs1333049
CDKN2B-AS1
60 0.614 0.520 9 22125504 intron variant G/C snv 0.41 0.010 1.000 1 2020 2020
dbSNP: rs1334767632
rs1334767632
BRCA2
2 0.925 0.080 13 32332437 missense variant T/C snv 7.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs140897205
rs140897205
ING1
2 0.925 0.080 13 110719619 missense variant C/T snv 5.1E-04 6.6E-04 0.010 1.000 1 2020 2020
dbSNP: rs1429142
rs1429142 		3 0.882 0.080 4 147368237 intergenic variant T/C snv 0.34 0.010 1.000 1 2020 2020
dbSNP: rs145240281
rs145240281
PZP ; KLRG1
2 0.925 0.080 12 9168938 stop gained G/A snv 4.3E-03 3.3E-03 0.010 1.000 1 2020 2020
dbSNP: rs1485746664
rs1485746664
NLRP2
2 0.925 0.080 19 54983311 missense variant T/C snv 7.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs2585428
rs2585428
CYP24A1
11 0.763 0.200 20 54170358 intron variant C/T snv 0.46 0.010 1.000 1 2020 2020
dbSNP: rs28897743
rs28897743
BRCA2
8 0.827 0.280 13 32346896 missense variant G/A;C;T snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs3740753
rs3740753
PGR ; PGR-AS1
2 0.925 0.080 11 101128040 missense variant C/G snv 0.13 0.12 0.010 1.000 1 2020 2020
dbSNP: rs376066276
rs376066276
TRIM21
4 0.925 0.080 11 4390219 missense variant C/A;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs6022999
rs6022999
CYP24A1
9 0.790 0.160 20 54171474 intron variant A/G snv 0.36 0.010 1.000 1 2020 2020
dbSNP: rs63749795
rs63749795
MLH1
8 0.807 0.240 3 37028833 stop gained C/T snv 0.010 1.000 1 2020 2020
dbSNP: rs63749820
rs63749820
MLH1
4 0.882 0.200 3 37007046 stop gained C/T snv 0.010 1.000 1 2020 2020
dbSNP: rs751877902
rs751877902
P3H2
2 0.925 0.080 3 189958001 stop gained G/A snv 2.8E-05 1.4E-05 0.010 1.000 1 2020 2020
dbSNP: rs766794072
rs766794072
CHEK2
2 0.925 0.080 22 28699890 missense variant A/G snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs912505
rs912505
CYP24A1
2 0.925 0.080 20 54160302 intron variant A/G;T snv 0.010 1.000 1 2020 2020
dbSNP: rs1065852
rs1065852
CYP2D6 ; NDUFA6-DT ; LOC112268294
19 0.695 0.360 22 42130692 missense variant G/A snv 0.21 0.19 0.020 1.000 2 2019 2019
dbSNP: rs10043985
rs10043985 		2 0.925 0.080 5 111065770 upstream gene variant A/C snv 5.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs1017105
rs1017105
CLDN12 ; LOC112267985
2 0.925 0.080 7 90413990 3 prime UTR variant C/T snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs1059122
rs1059122
FAM13A ; FAM13A-AS1
3 0.882 0.160 4 88726273 3 prime UTR variant T/A snv 0.46 0.010 1.000 1 2019 2019
dbSNP: rs1063320
rs1063320
HLA-G
12 0.752 0.360 6 29830972 3 prime UTR variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs10838524
rs10838524
CRY2
5 0.851 0.120 11 45848626 intron variant A/G snv 0.42 0.010 1.000 1 2019 2019
dbSNP: rs10841753
rs10841753
SLCO1B1
3 0.925 0.080 12 21168436 intron variant T/C snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs10877887
rs10877887
LINC01465 ; MIRLET7I
18 0.701 0.440 12 62603400 non coding transcript exon variant T/C snv 0.42 0.010 1.000 1 2019 2019