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: rs4269383
rs4269383
LOC101928923 ; LOC105378072
3 0.882 0.120 6 155876368 intergenic variant A/G snv 0.37 0.700 1.000 1 2011 2011
dbSNP: rs4927850
rs4927850
TFRC
2 0.925 0.120 3 196024759 intron variant T/C snv 0.71 0.700 1.000 1 2011 2011
dbSNP: rs5768709
rs5768709
TAFA5
2 0.925 0.120 22 48533757 intron variant A/G snv 0.36 0.700 1.000 1 2011 2011
dbSNP: rs6464375
rs6464375
DPP6
2 0.925 0.120 7 153928758 intron variant C/T snv 6.7E-02 0.700 1.000 1 2010 2010
dbSNP: rs7015626
rs7015626
LINC00964
1 1.000 0.120 8 124864572 intron variant G/A snv 0.39 0.700 1.000 1 2011 2011
dbSNP: rs708224
rs708224
BICD1
2 0.925 0.120 12 32283475 intron variant A/G snv 0.50 0.700 1.000 1 2010 2010
dbSNP: rs7106914
rs7106914
SBF2
1 1.000 0.120 11 9956424 intron variant T/C snv 0.38 0.700 1.000 1 2014 2014
dbSNP: rs7503953
rs7503953 		3 0.882 0.320 17 6238357 intergenic variant A/C snv 0.81 0.700 1.000 1 2011 2011
dbSNP: rs80358683
rs80358683
BRCA2
5 0.851 0.120 13 32338880 stop gained C/T snv 0.700 1.000 1 2004 2004
dbSNP: rs80359584
rs80359584
BRCA2
8 0.807 0.280 13 32340757 frameshift variant CTTAA/- delins 4.2E-06 1.4E-05 0.700 1.000 1 2004 2004
dbSNP: rs9363918
rs9363918 		3 0.882 0.200 6 68432116 intron variant T/G snv 0.38 0.700 1.000 1 2011 2011
dbSNP: rs9502893
rs9502893 		5 0.827 0.120 6 1339954 intergenic variant C/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs9543325
rs9543325 		3 0.882 0.200 13 73342491 regulatory region variant C/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs9573163
rs9573163 		2 0.925 0.120 13 73334709 regulatory region variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1555461176
rs1555461176
PALB2
1 1.000 0.120 16 23634893 stop gained -/T delins 0.700 0
dbSNP: rs587776416
rs587776416
PALB2
5 0.882 0.240 16 23629986 frameshift variant AT/- del 6.4E-05 2.1E-05 0.700 0
dbSNP: rs80358451
rs80358451
BRCA2
2 0.925 0.160 13 32333140 missense variant T/G snv 5.6E-05 6.3E-05 0.700 0
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.060 0.833 6 2007 2019
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.060 0.833 6 2006 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 1.000 5 2005 2020
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.050 1.000 5 2003 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 0.600 5 2005 2020
dbSNP: rs17107315
rs17107315
SPINK1
40 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.040 0.750 4 2003 2007
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.040 1.000 4 2006 2016
dbSNP: rs3212986
rs3212986
ERCC1 ; CD3EAP
42 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 0.040 1.000 4 2015 2019