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: rs1554826052
rs1554826052
PTEN
1 10 87965387 frameshift variant -/AT ins 0.700 1.000 4 1999 2014
dbSNP: rs397515635
rs397515635
BRCA2
3 0.925 0.200 13 32332667 frameshift variant -/NNNN;TTAG;TTAT ins 4.0E-06 0.700 1.000 4 2006 2016
dbSNP: rs80357915
rs80357915
BRCA1
3 0.925 0.200 17 43074394 frameshift variant -/C ins 0.700 1.000 4 2003 2016
dbSNP: rs1555282969
rs1555282969
BRCA2
3 0.925 0.200 13 32337312 frameshift variant -/G ins 0.700 1.000 3 2006 2015
dbSNP: rs876659681
rs876659681
MLH1
3 1.000 0.080 3 37048984 frameshift variant -/TT ins 0.700 1.000 3 2004 2013
dbSNP: rs753011366
rs753011366
ATM
1 11 108294992 frameshift variant -/CT ins 4.0E-06 0.700 1.000 2 1996 2000
dbSNP: rs587781780
rs587781780
NF1
1 17 31325888 stop gained -/AAT ins 0.700 1.000 1 2013 2013
dbSNP: rs749980674
rs749980674
BRCA2
3 0.925 0.200 13 32339596 frameshift variant -/TA ins 4.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs768182640
rs768182640
FH
3 0.925 0.320 1 241511968 frameshift variant -/CA ins 8.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs786201084
rs786201084
MSH6 ; FBXO11
3 1.000 0.160 2 47806300 frameshift variant -/T ins 0.700 1.000 1 2017 2017
dbSNP: rs1057518636
rs1057518636
BRCA1
3 1.000 17 43047646 frameshift variant -/A ins 0.700 0
dbSNP: rs1064794437
rs1064794437
ATM
1 11 108268501 frameshift variant -/AG ins 0.700 0
dbSNP: rs1114167524
rs1114167524
MEN1 ; MAP4K2
2 1.000 0.120 11 64805159 frameshift variant -/GGAC ins 0.700 0
dbSNP: rs1114167850
rs1114167850
MSH2
1 2 47445625 frameshift variant -/T ins 0.700 0
dbSNP: rs1131690955
rs1131690955
VHL
1 3 10146591 frameshift variant -/A ins 0.700 0
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.700 0
dbSNP: rs1131691133
rs1131691133
NF1
1 17 31336845 stop gained -/TTTAA ins 0.700 0
dbSNP: rs1131691139
rs1131691139
APC
1 5 112838499 frameshift variant -/C ins 0.700 0
dbSNP: rs1131691155
rs1131691155
ATM
1 11 108272847 frameshift variant -/T ins 8.0E-06 0.700 0
dbSNP: rs120074205
rs120074205
BRCA2
3 0.925 0.200 13 32326255 frameshift variant -/G ins 7.0E-06 0.700 0
dbSNP: rs1553370381
rs1553370381
MSH2
1 2 47480788 frameshift variant -/CA ins 0.700 0
dbSNP: rs1553645586
rs1553645586
BAP1
1 3 52406264 frameshift variant -/TAGTA ins 0.700 0
dbSNP: rs1554069524
rs1554069524
APC
1 5 112766353 frameshift variant -/G ins 0.700 0
dbSNP: rs1555116468
rs1555116468
ATM ; C11orf65
1 11 108320009 frameshift variant -/CT ins 0.700 0
dbSNP: rs1555283086
rs1555283086
BRCA2
2 1.000 0.200 13 32337542 frameshift variant -/G ins 0.700 0