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: rs786202193
rs786202193
MSH6 ; FBXO11
1 2 47791059 frameshift variant TTTTTTGATGACAG/- delins 0.700 0
dbSNP: rs766044684
rs766044684
NBN
2 1.000 0.040 8 89953438 frameshift variant TTTTT/-;T;TTTTTT delins 0.700 0
dbSNP: rs80357575
rs80357575
BRCA1
3 0.925 0.200 17 43092202 frameshift variant TTTTT/-;T;TT;TTTT;TTTTTT;TTTTTTT delins 0.700 1.000 3 1996 2017
dbSNP: rs1131691232
rs1131691232
DICER1
1 14 95116453 frameshift variant TTTTC/- delins 0.700 0
dbSNP: rs587782653
rs587782653
NBN
1 8 89946211 frameshift variant TTTTAATCACCAGT/- delins 0.700 0
dbSNP: rs80357770
rs80357770
BRCA1
3 0.925 0.200 17 43094141 frameshift variant TTTT/CTTTC;NNNNN;TTT;TTTTT delins 0.700 1.000 1 2002 2002
dbSNP: rs80357522
rs80357522
BRCA1
10 0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06 0.700 1.000 23 1995 2017
dbSNP: rs1060502759
rs1060502759
PALB2
2 1.000 0.080 16 23630447 frameshift variant TTTT/-;TT;TTT delins 0.700 0
dbSNP: rs786202253
rs786202253
MRE11
1 11 94478768 frameshift variant TTTGAAGC/- del 0.700 0
dbSNP: rs515726060
rs515726060
PALB2
3 0.925 0.160 16 23635493 frameshift variant TTTG/- delins 7.0E-06 0.700 1.000 4 2011 2014
dbSNP: rs587780100
rs587780100
NBN
2 1.000 0.040 8 89971174 frameshift variant TTTG/- delins 2.0E-05 2.1E-05 0.700 1.000 4 1998 2017
dbSNP: rs121913320
rs121913320
STK11
2 1.000 0.160 19 1221265 frameshift variant TTTG/- delins 0.700 1.000 1 1998 1998
dbSNP: rs1554569106
rs1554569106
NBN
2 1.000 0.040 8 89982804 frameshift variant TTTCCTT/- delins 0.700 0
dbSNP: rs786202800
rs786202800
ATM ; C11orf65
2 1.000 0.200 11 108343338 frameshift variant TTTCAGTGCC/- delins 0.700 1.000 8 1998 2017
dbSNP: rs1555374817
rs1555374817
DICER1
1 14 95124611 frameshift variant TTTATCTGCACACC/- delins 0.700 0
dbSNP: rs1114167807
rs1114167807
MSH2
1 2 47412476 frameshift variant TTTATCA/- delins 0.700 0
dbSNP: rs80357609
rs80357609
BRCA1
5 0.851 0.200 17 43091827 frameshift variant TTTAC/- delins 0.700 1.000 10 1995 2016
dbSNP: rs80359496
rs80359496
BRCA2
3 0.925 0.200 13 32339572 frameshift variant TTTAAGT/- del 2.4E-05; 4.0E-06 0.700 1.000 2 2000 2004
dbSNP: rs483353110
rs483353110
BRCA2
3 0.925 0.200 13 32333146 frameshift variant TTTA/ATT;NNN delins 0.700 0
dbSNP: rs1131691148
rs1131691148
ATM
1 11 108267274 frameshift variant TTTA/- delins 0.700 0
dbSNP: rs80359494
rs80359494
BRCA2
3 0.925 0.200 13 32339569 frameshift variant TTTA/- delins 0.700 0
dbSNP: rs483353077
rs483353077
BRCA2
3 1.000 13 32370470 frameshift variant TTT/AAAA;NNNN delins 0.700 0
dbSNP: rs267608159
rs267608159
PMS2
3 1.000 0.160 7 5987526 frameshift variant TTT/-;TTTT;TTTTTT delins 0.700 1.000 3 2010 2015
dbSNP: rs1555602141
rs1555602141
RAD51C
3 0.925 0.200 17 58720795 frameshift variant TTGTTCCTGC/- delins 0.700 1.000 1 2015 2015
dbSNP: rs80357864
rs80357864
BRCA1
3 0.925 0.200 17 43091597 frameshift variant TTGT/-;TTGTTTGT delins 0.700 0