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: rs1057519521
rs1057519521
8 0.851 0.120 10 129963375 frameshift variant TCTC/- del 0.700 0
dbSNP: rs1114167293
rs1114167293
7 0.807 0.320 12 6944474 splice acceptor variant A/G snv 4.0E-06 0.700 0
dbSNP: rs1553553086
rs1553553086
9 0.827 0.280 2 222623699 missense variant C/T snv 0.700 0
dbSNP: rs1554844486
rs1554844486
10 0.827 0.160 10 75024984 frameshift variant GGGT/- del 0.700 0
dbSNP: rs1555247805
rs1555247805
4 0.925 0.160 12 116008442 frameshift variant A/- del 0.700 0
dbSNP: rs1555462347
rs1555462347
34 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0
dbSNP: rs1555955296
rs1555955296
17 0.742 0.320 X 18628716 stop gained C/T snv 0.700 0
dbSNP: rs1556914274
rs1556914274
13 0.790 0.440 X 53537626 missense variant G/A snv 0.700 0
dbSNP: rs200661329
rs200661329
48 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
dbSNP: rs796052505
rs796052505
57 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0
dbSNP: rs863223330
rs863223330
8 0.807 0.280 14 60648629 splice donor variant C/G snv 0.700 0
dbSNP: rs875989802
rs875989802
6 0.882 0.080 X 41344278 missense variant G/A snv 0.700 0
dbSNP: rs5443
rs5443
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.020 1.000 2 2004 2017
dbSNP: rs1799939
rs1799939
RET
27 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.010 1.000 1 2008 2008
dbSNP: rs1800469
rs1800469
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.010 1.000 1 2008 2008
dbSNP: rs1982073
rs1982073
32 0.649 0.640 19 41353016 missense variant G/A;C snv 0.010 1.000 1 2008 2008
dbSNP: rs4073
rs4073
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2011 2011
dbSNP: rs387907144
rs387907144
34 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
dbSNP: rs1555883505
rs1555883505
10 0.827 0.160 20 63490712 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs11759064
rs11759064
1 1.000 0.080 6 162379633 intron variant C/T snv 0.22 0.700 1.000 1 2017 2017
dbSNP: rs5186
rs5186
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.010 1.000 1 2017 2017
dbSNP: rs527656756
rs527656756
21 0.716 0.400 2 42770143 frameshift variant -/A delins 1.7E-05 1.4E-05 0.700 1.000 1 2017 2017
dbSNP: rs606231357
rs606231357
3 0.882 0.120 8 71271753 splice region variant C/T snv 0.700 1.000 1 2017 2017