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: rs75076352
rs75076352
RET
24 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.020 1.000 2 1997 2002
dbSNP: rs75996173
rs75996173
RET
21 0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.020 1.000 2 1994 1998
dbSNP: rs1206969193
rs1206969193
RET
2 0.925 0.200 10 43112117 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs1421685618
rs1421685618
IL31RA
2 0.925 0.200 5 55910565 missense variant G/A snv 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs202145435
rs202145435
OSMR
2 0.925 0.200 5 38919015 missense variant G/A snv 9.1E-04 3.3E-04 0.010 1.000 1 2015 2015
dbSNP: rs377767397
rs377767397
RET
10 0.790 0.280 10 43113628 missense variant G/A;C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs377767398
rs377767398
RET
8 0.807 0.280 10 43113628 missense variant GC/AT;CT;TT mnv 0.010 1.000 1 2018 2018
dbSNP: rs387906571
rs387906571
APOA1 ; APOA1-AS
2 0.925 0.120 11 116836094 missense variant C/G snv 0.010 1.000 1 1999 1999
dbSNP: rs75234356
rs75234356
RET
14 0.716 0.240 10 43120144 missense variant T/G snv 1.2E-05 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs958191819
rs958191819
TTR
6 0.851 0.240 18 31595212 missense variant A/T snv 7.0E-06 0.010 1.000 1 2003 2003