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: rs1057517648
rs1057517648
BRIP1
4 0.882 0.280 17 61859795 splice donor variant C/- delins 0.700 0
dbSNP: rs1057517763
rs1057517763
MSH6 ; FBXO11
2 2 47804920 stop gained T/A snv 0.700 0
dbSNP: rs1057517801
rs1057517801
PMS2
2 7 5987022 frameshift variant T/- delins 0.700 0
dbSNP: rs1057517809
rs1057517809
PTEN
4 0.882 0.160 10 87965286 splice acceptor variant G/A;C snv 0.700 0
dbSNP: rs1057517818
rs1057517818
SDHC
1 1 161328498 splice donor variant G/C snv 0.700 0
dbSNP: rs1057517830
rs1057517830
STK11
1 19 1221212 splice acceptor variant G/A snv 0.700 0
dbSNP: rs1057518636
rs1057518636
BRCA1
3 1.000 17 43047646 frameshift variant -/A ins 0.700 0
dbSNP: rs1057519368
rs1057519368
PTEN
4 0.882 0.320 10 87957958 stop gained T/A;C;G snv 4.0E-06 0.700 0
dbSNP: rs1057520640
rs1057520640
ATM
2 1.000 0.200 11 108287712 stop gained C/A snv 7.0E-06 0.700 0
dbSNP: rs1057520645
rs1057520645
PALB2
1 16 23630470 splice acceptor variant C/G;T snv 0.700 0
dbSNP: rs1057522275
rs1057522275
TP53
1 17 7674246 missense variant G/A;C snv 0.700 0
dbSNP: rs1057523165
rs1057523165
SDHA
3 0.925 0.080 5 223569 splice donor variant G/A snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs1060499641
rs1060499641
FH
3 0.925 0.320 1 241504109 frameshift variant A/- del 0.700 0
dbSNP: rs1060499812
rs1060499812
PALB2
1 16 23635507 stop gained C/A snv 0.700 0
dbSNP: rs1060499813
rs1060499813
PALB2
1 16 23635496 frameshift variant GATT/- delins 0.700 0
dbSNP: rs1060499814
rs1060499814
PALB2
2 1.000 0.080 16 23638069 splice donor variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1060499815
rs1060499815
PALB2
1 16 23635431 frameshift variant -/T delins 0.700 0
dbSNP: rs1060499818
rs1060499818
PALB2
1 16 23630336 frameshift variant AA/- delins 0.700 0
dbSNP: rs1060499819
rs1060499819
PALB2
2 1.000 0.080 16 23630062 frameshift variant G/- delins 7.0E-06 0.700 0
dbSNP: rs1060499821
rs1060499821
PALB2
1 16 23626234 splice donor variant A/G snv 0.700 0
dbSNP: rs1060499823
rs1060499823
PALB2
1 16 23624011 frameshift variant G/- del 0.700 0
dbSNP: rs1060499824
rs1060499824
PALB2
1 16 23623115 frameshift variant G/- delins 0.700 0
dbSNP: rs1060499827
rs1060499827
PALB2
2 1.000 0.080 16 23608014 splice acceptor variant T/G snv 0.700 0
dbSNP: rs1060499828
rs1060499828
PALB2
1 16 23607903 frameshift variant C/- delins 0.700 0
dbSNP: rs1060499829
rs1060499829
PALB2 ; DCTN5
1 16 23641109 splice donor variant C/- delins 0.700 0