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: rs398122820
rs398122820
B2M
8 0.790 0.240 15 44715641 missense variant G/A snv 0.700 0
dbSNP: rs1023835002
rs1023835002
B2M ; PATL2
10 0.763 0.280 15 44711547 start lost A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519877
rs1057519877
B2M ; PATL2
10 0.763 0.280 15 44711549 start lost G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519879
rs1057519879
B2M ; PATL2
10 0.763 0.280 15 44711548 start lost T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2019 2019
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs121913338
rs121913338
BRAF
24 0.677 0.400 7 140753354 missense variant T/A;C;G snv 0.800 1.000 1 2003 2003
dbSNP: rs121913355
rs121913355
BRAF
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.800 1.000 1 2003 2003
dbSNP: rs121913357
rs121913357
BRAF
12 0.742 0.320 7 140781603 stop gained C/A;G;T snv 0.800 1.000 1 2003 2003
dbSNP: rs80357522
rs80357522
BRCA1
10 0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06 0.700 0
dbSNP: rs144848
rs144848
BRCA2
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2017 2017
dbSNP: rs80359306
rs80359306
BRCA2
6 0.827 0.280 13 32333284 frameshift variant A/-;AA delins 0.700 0
dbSNP: rs28936699
rs28936699
CASP10
1 1.000 0.120 2 201209388 missense variant C/T snv 0.800 1.000 1 2002 2002
dbSNP: rs121909775
rs121909775
CASP10
2 1.000 0.120 2 201205929 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs398122800
rs398122800
CASP10
1 1.000 0.120 2 201209189 frameshift variant -/A ins 0.700 0
dbSNP: rs13706
rs13706
CDC6
11 0.776 0.200 17 40300899 missense variant G/A;C snv 0.15; 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs3749474
rs3749474
CLOCK ; TMEM165
17 0.724 0.320 4 55434518 3 prime UTR variant C/T snv 0.33 0.010 1.000 1 2017 2017
dbSNP: rs1801157
rs1801157
CXCL12
46 0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16 0.010 1.000 1 2009 2009
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2006 2006
dbSNP: rs2070673
rs2070673
CYP2E1 ; LOC107984284
5 0.827 0.160 10 133527063 non coding transcript exon variant A/T snv 0.67 0.010 1.000 1 2011 2011
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.030 1.000 3 2014 2017
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.020 1.000 2 2014 2015
dbSNP: rs1057519894
rs1057519894
EZH2
2 0.925 0.160 7 148811650 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs267601394
rs267601394
EZH2
8 0.807 0.200 7 148811635 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs267601395
rs267601395
EZH2
7 0.925 0.160 7 148811636 missense variant A/G;T snv 0.700 1.000 1 2016 2016