Source: CURATED ×
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: rs1057519052
rs1057519052
DENND3
1 1.000 8 141168410 frameshift variant G/- del 0.700 0
dbSNP: rs1057519322
rs1057519322
NCLN
1 1.000 19 3193404 stop gained C/T snv 0.700 0
dbSNP: rs1057519323
rs1057519323
NUP98
1 1.000 11 3676355 missense variant T/C snv 0.700 0
dbSNP: rs1060499894
rs1060499894
RET
1 1.000 10 43106455 missense variant G/C;T snv 0.700 0
dbSNP: rs1255575160
rs1255575160
RET
1 1.000 10 43113672 missense variant C/A snv 4.0E-06 0.700 0
dbSNP: rs1318733775
rs1318733775
RET
1 1.000 10 43119576 missense variant G/A snv 4.1E-06 7.0E-06 0.700 0
dbSNP: rs1451004715
rs1451004715
RET
1 1.000 10 43120091 missense variant G/A snv 0.700 0
dbSNP: rs1477699803
rs1477699803
RET
1 1.000 10 43100662 missense variant G/A snv 0.700 0
dbSNP: rs1553540620
rs1553540620
IHH ; MIR3131
2 1.000 2 219060317 missense variant G/T snv 0.700 0
dbSNP: rs1564494285
rs1564494285
RET
6 0.882 0.200 10 43111219 frameshift variant TG/- delins 0.700 0
dbSNP: rs17158558
rs17158558
RET
1 0.925 0.080 10 43124887 missense variant C/T snv 1.9E-02 1.6E-02 0.700 0
dbSNP: rs200127630
rs200127630
RET
1 1.000 10 43119626 missense variant G/A snv 5.2E-05 2.1E-05 0.700 0
dbSNP: rs2435357
rs2435357
RET
3 0.790 0.240 10 43086608 intron variant T/C snv 0.79 0.700 0
dbSNP: rs377767396
rs377767396
RET
1 0.925 0.080 10 43113623 missense variant C/G;T snv 0.700 0
dbSNP: rs377767412
rs377767412
RET
7 0.790 0.240 10 43114547 synonymous variant G/A snv 0.700 0
dbSNP: rs377767430
rs377767430
RET
1 0.882 0.080 10 43120192 missense variant A/C;G snv 0.700 0
dbSNP: rs533778281
rs533778281
POLR2F
1 1.000 22 38016774 intron variant G/C snv 9.5E-04 0.700 0
dbSNP: rs541929171
rs541929171
RET
1 1.000 10 43105158 missense variant A/G snv 2.8E-05 7.0E-06 0.700 0
dbSNP: rs562449603
rs562449603
RET
1 1.000 10 43105077 missense variant G/A snv 0.700 0
dbSNP: rs606231342
rs606231342
POLR2F
1 1.000 22 38016208 intron variant G/A snv 1.4E-05 0.700 0
dbSNP: rs746970700
rs746970700
RET
1 1.000 10 43109201 missense variant G/A snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs747483905
rs747483905
RET
1 1.000 10 43102344 missense variant C/A;T snv 8.0E-06 0.700 0
dbSNP: rs75075748
rs75075748
RET
1 1.000 10 43118381 missense variant T/C snv 0.700 0
dbSNP: rs75225191
rs75225191
RET
1 1.000 10 43114541 synonymous variant C/T snv 9.6E-05 3.5E-05 0.700 0
dbSNP: rs759944122
rs759944122
TBATA
1 1.000 10 70781921 missense variant G/A snv 3.2E-05 7.0E-06 0.700 0