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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.902 61 2002 2019
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.100 0.878 49 2001 2019
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: rs3803662
rs3803662
CASC16
25 0.662 0.440 16 52552429 non coding transcript exon variant A/G snv 0.63 0.800 0.950 40 2007 2019
dbSNP: rs1136201
rs1136201
ERBB2
34 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 0.100 0.895 38 2000 2018
dbSNP: rs2981582
rs2981582
FGFR2
21 0.695 0.360 10 121592803 intron variant A/G snv 0.58 0.800 0.971 35 2007 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.813 32 2004 2019
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 0.800 30 2000 2019
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.100 0.862 29 1997 2019
dbSNP: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.800 0.929 28 2001 2016
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.100 0.889 27 2003 2019
dbSNP: rs2046210
rs2046210 		21 0.708 0.280 6 151627231 intergenic variant G/A snv 0.41 0.800 1.000 26 2009 2019
dbSNP: rs397507595
rs397507595
BRCA2
1 1.000 0.080 13 32319167 missense variant A/G snv 0.700 1.000 25 1997 2014
dbSNP: rs397507674
rs397507674
BRCA2
1 1.000 0.080 13 32337891 missense variant G/A snv 4.0E-06 0.700 1.000 25 1997 2014
dbSNP: rs397507770
rs397507770
BRCA2
1 1.000 0.080 13 32339543 missense variant A/T snv 8.2E-06 0.700 1.000 25 1997 2014
dbSNP: rs397507822
rs397507822
BRCA2
1 1.000 0.080 13 32326584 missense variant C/G;T snv 0.700 1.000 25 1997 2014
dbSNP: rs397507847
rs397507847
BRCA2
1 1.000 0.080 13 32340739 missense variant A/C;G snv 0.700 1.000 25 1997 2014
dbSNP: rs397507873
rs397507873
BRCA2
1 1.000 0.080 13 32329475 missense variant C/T snv 0.700 1.000 25 1997 2014
dbSNP: rs397507912
rs397507912
BRCA2
4 0.882 0.200 13 32355219 stop gained C/G;T snv 0.700 1.000 25 1997 2014
dbSNP: rs397508869
rs397508869
BRCA1
1 1.000 0.080 17 43094138 missense variant A/C snv 0.700 1.000 25 1994 2017
dbSNP: rs397508893
rs397508893
BRCA1
1 1.000 0.080 17 43093876 missense variant C/A;T snv 0.700 1.000 25 1994 2017
dbSNP: rs397508994
rs397508994
BRCA1
2 0.925 0.080 17 43092856 stop gained A/C;G snv 0.700 1.000 25 1994 2017
dbSNP: rs397509022
rs397509022
BRCA1
1 1.000 0.080 17 43092652 missense variant C/T snv 0.700 1.000 25 1994 2017
dbSNP: rs397509034
rs397509034
BRCA1
1 1.000 0.080 17 43092457 missense variant G/A snv 0.700 1.000 25 1994 2017
dbSNP: rs397509037
rs397509037
BRCA1
1 1.000 0.080 17 43092391 missense variant A/G snv 0.700 1.000 25 1994 2017