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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.060 0.667 6 2007 2016
dbSNP: rs200182588
rs200182588
SMC2 ; SMC2-AS1
6 0.827 0.160 9 104094409 5 prime UTR variant -/GC ins 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.060 0.667 6 2007 2016
dbSNP: rs1353855643
rs1353855643
ELAC2
2 0.925 0.080 17 13000197 frameshift variant T/- del 4.0E-06 0.020 0.500 2 2005 2008
dbSNP: rs776941569
rs776941569
CTSB
6 0.851 0.160 8 11853378 frameshift variant AG/- del 1.6E-04 1.5E-04 0.010 1.000 1 2010 2010
dbSNP: rs80357796
rs80357796
BRCA1
11 0.752 0.240 17 43094464 frameshift variant T/- del 0.010 1.000 1 2007 2007
dbSNP: rs866195758
rs866195758
TLR10
2 0.925 0.080 4 38774477 frameshift variant GCAGTTGGAT/- del 0.010 1.000 1 2008 2008
dbSNP: rs555607708
rs555607708
CHEK2
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.030 1.000 3 2000 2006
dbSNP: rs145204276
rs145204276
GAS5 ; ZBTB37 ; SNORD74 ; SNORD75 ; SNORD76 ; SNORD77 ; SNORA103
31 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.020 1.000 2 2019 2019
dbSNP: rs17884057
rs17884057
SOD1
2 0.925 0.080 21 31664502 intron variant AGA/- delins 0.13 0.020 1.000 2 2011 2013
dbSNP: rs28360071
rs28360071
XRCC4
18 0.708 0.240 5 83142293 intron variant GATGAGGAAACTAACTCTCAGTGGTGTTTA/- delins 0.48 0.020 1.000 2 2011 2013
dbSNP: rs1799750
rs1799750
MMP1 ; WTAPP1
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 < 0.001 1 2018 2018
dbSNP: rs28360317
rs28360317
XRCC4
15 0.716 0.280 5 83323739 intron variant -/CCT delins 0.24 0.010 1.000 1 2011 2011
dbSNP: rs333
rs333
CCR5 ; CCR5AS
23 0.667 0.520 3 46373453 frameshift variant GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- delins 7.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs3783553
rs3783553
IL1A
26 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 0.010 1.000 1 2018 2018
dbSNP: rs3917887
rs3917887
CCL2
8 0.776 0.240 17 34255979 non coding transcript exon variant AGCTCCTCCTTCTC/-;AGCTCCTCCTTCTCAGCTCCTCCTTCTC delins 0.33 0.010 1.000 1 2015 2015
dbSNP: rs4646284
rs4646284
SLC22A1
2 0.925 0.080 6 160160511 downstream gene variant -/G delins 0.31 0.010 1.000 1 2015 2015
dbSNP: rs6147150
rs6147150
ERBB4
5 0.827 0.160 2 211380365 3 prime UTR variant -/AAAATAGGATTG delins 0.010 1.000 1 2016 2016
dbSNP: rs80359328
rs80359328
BRCA2
4 0.882 0.240 13 32336684 frameshift variant -/A delins 0.700 0
dbSNP: rs80359540
rs80359540
BRCA2
3 0.925 0.080 13 32340176 frameshift variant A/- delins 0.700 0
dbSNP: rs80359584
rs80359584
BRCA2
8 0.807 0.280 13 32340757 frameshift variant CTTAA/- delins 4.2E-06 1.4E-05 0.700 0
dbSNP: rs1447295
rs1447295
CASC8
29 0.658 0.400 8 127472793 intron variant A/C;T snv 0.800 0.917 36 2007 2018
dbSNP: rs138213197
rs138213197
HOXB13
24 0.701 0.240 17 48728343 missense variant C/T snv 1.8E-03 1.6E-03 0.800 0.935 31 2012 2019
dbSNP: rs10993994
rs10993994
MSMB
15 0.763 0.280 10 46046326 5 prime UTR variant A/G snv 0.54 0.800 1.000 30 2008 2019