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: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.100 0.833 48 2003 2020
dbSNP: rs895819
rs895819
LOC284454 ; MIR23A ; MIR24-2 ; MIR27A
46 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 0.100 0.941 17 2012 2020
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.100 1.000 16 2009 2020
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.100 0.867 15 2007 2020
dbSNP: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.100 1.000 10 2007 2020
dbSNP: rs4784227
rs4784227
CASC16
8 0.807 0.160 16 52565276 intron variant C/T snv 0.20 0.770 1.000 10 2010 2020
dbSNP: rs9340799
rs9340799
ESR1
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.070 0.857 7 2007 2020
dbSNP: rs1042838
rs1042838
PGR
12 0.742 0.240 11 101062681 missense variant C/A;G snv 0.13; 4.0E-06 0.060 0.667 6 2002 2020
dbSNP: rs10895068
rs10895068
PGR ; PGR-AS1
14 0.752 0.240 11 101129483 5 prime UTR variant C/T snv 3.6E-02 0.040 1.000 4 2008 2020
dbSNP: rs17530068
rs17530068
LOC105377871
3 0.882 0.120 6 81483392 intergenic variant T/C snv 0.19 0.730 1.000 4 2012 2020
dbSNP: rs28934576
rs28934576
TP53
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.040 1.000 4 2011 2020
dbSNP: rs4809960
rs4809960
CYP24A1
8 0.807 0.240 20 54169534 intron variant T/C snv 0.20 0.020 1.000 2 2018 2020
dbSNP: rs590688
rs590688
PGR
2 0.925 0.080 11 101105243 intron variant C/G snv 0.47 0.020 1.000 2 2013 2020
dbSNP: rs927650
rs927650
CYP24A1
9 0.763 0.240 20 54156202 intron variant T/A;C snv 0.020 1.000 2 2015 2020
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