Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs121908817
CIAO1 ; TMEM127
0.925 0.040 2 96265232 frameshift variant -/T delins 2
rs121908813
CIAO1 ; TMEM127
1.000 0.040 2 96265399 5 prime UTR variant G/A snv 1
rs121908815
CIAO1 ; TMEM127
1.000 0.040 2 96265306 stop gained G/A snv 1
rs121908818
CIAO1 ; TMEM127
0.925 0.080 2 96265224 stop gained C/G;T snv 7.0E-06 1
rs199822819
FH
0.925 0.240 1 241512001 missense variant G/C;T snv 2.0E-05 2.8E-05 3
rs121908164
KIF1B ; LOC105376725
1.000 0.040 1 10365476 missense variant G/A snv 4.0E-06 7.0E-06 2
rs387906649
MAX
0.925 0.040 14 65102339 start lost T/C snv 3
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 12
rs74799832
RET
0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 17
rs79658334
RET
0.662 0.360 10 43119548 missense variant G/A;C;T snv 1.2E-04; 4.3E-06 14
rs76262710
RET
0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06 11
rs75996173
RET
0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 10
rs77724903
RET
0.672 0.280 10 43118460 missense variant A/G;T snv 4.0E-06; 2.1E-03 10
rs75076352
RET
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 9
rs77939446
RET
0.724 0.120 10 43113622 missense variant G/A;C;T snv 4.0E-06 9
rs77709286
RET
0.752 0.160 10 43114502 missense variant C/G snv 4.0E-06 8
rs78014899
RET
0.742 0.160 10 43118392 missense variant G/A;C;T snv 8.0E-06 8
rs79781594
RET
0.732 0.160 10 43113649 missense variant G/A;C;T snv 8
rs377767412
RET
0.790 0.240 10 43114547 synonymous variant G/A snv 7
rs75234356
RET
0.716 0.240 10 43120144 missense variant T/G snv 1.2E-05 7.0E-06 7
rs377767404
RET
0.742 0.160 10 43114488 missense variant T/C snv 6
rs77558292
RET
0.776 0.160 10 43113621 missense variant T/A;C;G snv 4
rs146646971
RET
0.807 0.120 10 43114598 missense variant G/C;T snv 2.4E-05 3