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: rs369328859
rs369328859
ANKIB1
1 1.000 0.080 7 92344194 intron variant TTTTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT delins 0.700 1.000 1 2017 2017
dbSNP: rs57237364
rs57237364
FAM185A ; FBXL13
1 1.000 0.080 7 102824786 intron variant TTTTTTTTTTT/-;T;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTTT delins 0.700 1.000 1 2017 2017
dbSNP: rs71695136
rs71695136
IST1
1 1.000 0.080 16 71918418 intron variant TTTTTTT/-;TTT;TTTT;TTTTT;TTTTTT;TTTTTTTT;TTTTTTTTTTTTTTT delins 0.700 1.000 1 2017 2017
dbSNP: rs142890050
rs142890050 		1 1.000 0.080 8 23622741 intergenic variant TTTTTTT/-;TT;TTTT;TTTTT;TTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT delins 0.700 1.000 1 2017 2017
dbSNP: rs376045897
rs376045897
SLC30A6 ; NLRC4
1 1.000 0.080 2 32224803 intron variant TTTTT/-;T;TT;TTT;TTTT;TTTTTT;TTTTTTTT delins 0.48 0.700 1.000 1 2019 2019
dbSNP: rs56168262
rs56168262 		1 1.000 0.080 1 51001425 intergenic variant TTTTT/-;T;TT;TTT;TTTT;TTTTTT;TTTTTTT delins 0.40 0.700 1.000 1 2017 2017
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: rs56333866
rs56333866
PIP4K2A
1 1.000 0.080 10 22581150 intron variant TTTC/- delins 0.97 0.700 1.000 1 2017 2017
dbSNP: rs71801447
rs71801447
BCL2L11 ; MIR4435-2HG
1 1.000 0.080 2 111168155 3 prime UTR variant TTTATGT/- delins 0.700 1.000 1 2017 2017
dbSNP: rs35409891
rs35409891
TAB2
1 1.000 0.080 6 149265193 intron variant TTT/-;T;TT;TTTT;TTTTT;TTTTTTTTT;TTTTTTTTTTTTTTT delins 0.700 1.000 1 2017 2017
dbSNP: rs35951924
rs35951924 		1 1.000 0.080 5 50899260 upstream gene variant TTT/-;T;TT;TTTT;TTTTT;TTTTTT delins 0.700 1.000 1 2017 2017
dbSNP: rs34207738
rs34207738
ZBTB38
1 1.000 0.080 3 141394018 intron variant TTT/-;T;TT;TTTT;TTTTT delins 0.700 1.000 1 2017 2017
dbSNP: rs139530473
rs139530473
LOC101928957
1 1.000 0.080 14 91545453 intergenic variant TTCT/- delins 0.18 0.700 1.000 1 2017 2017
dbSNP: rs72010703
rs72010703
CCNE1
2 0.925 0.080 19 29813348 intron variant TTAG/-;TTAGTTAG delins 0.010 < 0.001 1 2014 2014
dbSNP: rs145106188
rs145106188 		1 1.000 0.080 5 50491020 intergenic variant TT/-;T;TTT;TTTT;TTTTTTTTTTTT delins 0.700 1.000 1 2017 2017
dbSNP: rs66987842
rs66987842
MRTFA
1 1.000 0.080 22 40508704 intron variant TT/-;T;TTT;TTTT;TTTTTTTT;TTTTTTTTTTTTTT delins 0.700 1.000 1 2017 2017
dbSNP: rs144366570
rs144366570 		1 1.000 0.080 1 45548287 upstream gene variant TT/-;T;TTT;TTTT;TTTTT delins 0.700 1.000 1 2017 2017
dbSNP: rs200648189
rs200648189
NCOA1
1 1.000 0.080 2 24516826 intron variant TT/-;T;TTT;TTTT;TTTTT delins 0.700 1.000 1 2017 2017
dbSNP: rs11471161
rs11471161
LINC01291
2 0.925 0.080 2 74921567 intron variant TT/- delins 0.42 0.010 1.000 1 2017 2017
dbSNP: rs80357956
rs80357956
BRCA1
4 0.851 0.080 17 43091982 frameshift variant TT/- delins 0.010 1.000 1 2011 2011
dbSNP: rs1057519848
rs1057519848
EGFR
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.020 1.000 2 2013 2015
dbSNP: rs796096871
rs796096871
AKAP10
6 0.807 0.200 17 19909228 missense variant TG/CA mnv 0.010 1.000 1 2007 2007
dbSNP: rs146699004
rs146699004
TEFM
1 1.000 0.080 17 30903503 intron variant TG/- delins 0.25 0.700 1.000 1 2017 2017
dbSNP: rs764342874
rs764342874
GSTK1 ; LOC105375545 ; LOC105375546
3 0.882 0.240 7 143263541 frameshift variant TCTTCTATGACGTGCTGTC/- delins 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs60936670
rs60936670
NEK10
1 1.000 0.080 3 27290919 intron variant TCAAAACA/- delins 0.700 1.000 1 2017 2017