Source: CLINVAR ×
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: rs75076352
rs75076352
RET
9 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.710 1.000 3 2001 2018
dbSNP: rs142698837
rs142698837
TG
5 0.851 0.080 8 132869781 missense variant G/A snv 7.6E-04 7.0E-04 0.700 0
dbSNP: rs555607708
rs555607708
CHEK2
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
dbSNP: rs587779826
rs587779826
ATM
5 0.851 0.360 11 108267344 splice donor variant T/C snv 4.0E-06 0.700 0