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: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2016 2016
dbSNP: rs121908818
rs121908818
CIAO1 ; TMEM127
2 0.925 0.080 2 96265224 stop gained C/G;T snv 7.0E-06 0.700 1.000 2 2010 2010
dbSNP: rs121908819
rs121908819
CIAO1 ; TMEM127
1 1.000 0.040 2 96265174 missense variant C/T snv 2.0E-04 7.2E-04 0.700 1.000 2 2010 2010
dbSNP: rs121908820
rs121908820
CIAO1 ; TMEM127
1 1.000 0.040 2 96265165 missense variant C/G snv 3.7E-05 3.5E-05 0.700 1.000 2 2010 2010
dbSNP: rs121908813
rs121908813
CIAO1 ; TMEM127
1 1.000 0.040 2 96265399 5 prime UTR variant G/A snv 0.700 0
dbSNP: rs121908814
rs121908814
CIAO1 ; TMEM127
3 0.925 0.040 2 96265379 start lost C/A;T snv 0.700 0
dbSNP: rs121908815
rs121908815
CIAO1 ; TMEM127
1 1.000 0.040 2 96265306 stop gained G/A snv 0.700 0
dbSNP: rs121908816
rs121908816
CIAO1 ; TMEM127
3 0.925 0.080 2 96265262 frameshift variant ACAG/- delins 2.1E-05 0.700 0
dbSNP: rs121908817
rs121908817
CIAO1 ; TMEM127
2 0.925 0.040 2 96265232 frameshift variant -/T delins 0.700 0
dbSNP: rs199822819
rs199822819
FH
3 0.925 0.240 1 241512001 missense variant G/C;T snv 2.0E-05 2.8E-05 0.700 0
dbSNP: rs36119840
rs36119840
GDNF ; GDNF-AS1
6 0.807 0.280 5 37816010 missense variant G/A snv 2.3E-03 2.7E-03 0.710 1.000 1 1997 1997
dbSNP: rs121908164
rs121908164
KIF1B ; LOC105376725
2 1.000 0.040 1 10365476 missense variant G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs201743423
rs201743423
MAX
1 1.000 0.040 14 65102315 missense variant C/A snv 8.9E-05 7.0E-05 0.700 1.000 6 2011 2015
dbSNP: rs387906649
rs387906649
MAX
3 0.925 0.040 14 65102339 start lost T/C snv 0.700 0
dbSNP: rs149617956
rs149617956
MITF
32 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.010 1.000 1 2016 2016
dbSNP: rs374918502
rs374918502
NTRK1
2 0.925 0.080 1 156880056 missense variant C/T snv 6.0E-05 7.6E-06 0.010 1.000 1 2008 2008
dbSNP: rs75996173
rs75996173
RET
21 0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.850 1.000 8 2002 2014
dbSNP: rs75076352
rs75076352
RET
24 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.820 1.000 5 2005 2014
dbSNP: rs74799832
rs74799832
RET
33 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.740 1.000 4 1997 2019
dbSNP: rs377767406
rs377767406
RET
9 0.776 0.120 10 43114491 missense variant G/A;T snv 4.0E-05; 4.0E-06 0.030 1.000 3 2006 2017
dbSNP: rs77558292
rs77558292
RET
8 0.776 0.160 10 43113621 missense variant T/A;C;G snv 0.030 1.000 3 2005 2012
dbSNP: rs77724903
rs77724903
RET
23 0.672 0.280 10 43118460 missense variant A/G;T snv 4.0E-06; 2.1E-03 0.830 0.667 3 2010 2015
dbSNP: rs77939446
rs77939446
RET
15 0.724 0.120 10 43113622 missense variant G/A;C;T snv 4.0E-06 0.030 1.000 3 2005 2012
dbSNP: rs146646971
rs146646971
RET
7 0.807 0.120 10 43114598 missense variant G/C;T snv 2.4E-05 0.020 1.000 2 2016 2018