Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1559586374
rs1559586374
1.000 3 52403415 splice donor variant C/- delins
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME
0.700 1.000 3 2011 2016
dbSNP: rs387906848
rs387906848
1.000 3 52402608 stop gained G/A snv 4.0E-06
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME
0.700 1.000 3 2008 2014
dbSNP: rs869025212
rs869025212
0.827 0.200 3 52403428 frameshift variant G/- delins
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME
0.700 1.000 3 2011 2015
dbSNP: rs1060503735
rs1060503735
1.000 3 52409716 frameshift variant A/- delins
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME
0.700 1.000 2 2011 2013
dbSNP: rs112194987
rs112194987
1.000 3 52405296 splice acceptor variant T/A;C snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME
0.700 1.000 2 2011 2013
dbSNP: rs1553644659
rs1553644659
1.000 3 52402787 stop gained T/A snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME
0.700 1.000 2 2012 2015
dbSNP: rs1553645729
rs1553645729
1.000 3 52406908 splice acceptor variant C/A;T snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME
0.700 1.000 2 2011 2013
dbSNP: rs1553645838
rs1553645838
1.000 3 52407398 splice donor variant C/A snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME
0.700 1.000 2 2011 2013
dbSNP: rs1559586168
rs1559586168
1.000 3 52403299 splice acceptor variant C/T snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME
0.700 1.000 2 2011 2013
dbSNP: rs1559589809
rs1559589809
1.000 3 52406378 splice acceptor variant T/C snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME
0.700 1.000 2 2011 2013
dbSNP: rs1559591511
rs1559591511
1.000 3 52408459 splice donor variant CAGAGTCCAGCAGACCT/- del
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME
0.700 1.000 2 2011 2013
dbSNP: rs1559593339
rs1559593339
1.000 3 52409841 splice donor variant C/A snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME
0.700 1.000 2 2011 2013
dbSNP: rs774730309
rs774730309
1.000 3 52406251 splice donor variant A/G snv 8.0E-06 7.0E-06
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME
0.700 1.000 2 2011 2013
dbSNP: rs776240891
rs776240891
1.000 3 52406279 stop gained G/A;T snv 1.6E-05
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME
0.700 1.000 2 2011 2013
dbSNP: rs1253151209
rs1253151209
1.000 3 52408551 stop gained G/A;T snv 7.0E-06
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME
0.700 1.000 1 2012 2012
dbSNP: rs1553645720
rs1553645720
1.000 3 52406896 stop gained C/A snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME
0.700 1.000 1 2015 2015
dbSNP: rs1553645809
rs1553645809
1.000 3 52407243 frameshift variant -/A delins
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME
0.700 1.000 1 2015 2015
dbSNP: rs1060503726
rs1060503726
1.000 3 52407210 stop gained C/A snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME
0.700 0
dbSNP: rs1060503727
rs1060503727
1.000 3 52406844 frameshift variant C/- delins
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME
0.700 0
dbSNP: rs1060503731
rs1060503731
1.000 3 52403729 frameshift variant C/- delins
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME
0.700 0
dbSNP: rs1060503732
rs1060503732
1.000 3 52408607 splice acceptor variant C/G snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME
0.700 0
dbSNP: rs1060503743
rs1060503743
1.000 3 52403193 frameshift variant T/- delins
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME
0.700 0
dbSNP: rs1060503744
rs1060503744
1.000 3 52408548 stop gained T/A snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME
0.700 0
dbSNP: rs1060503750
rs1060503750
1.000 3 52408473 splice donor variant C/A;T snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME
0.700 0
dbSNP: rs1064795638
rs1064795638
0.851 0.080 3 52403251 stop gained G/A snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME
0.700 0