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: rs779557320
rs779557320
1 1.000 0.120 4 41745985 inframe insertion CGCCGCCGCTGCCGC/-;CGCCGCCGCTGCCGCCGCCGCCGCTGCCGC delins 1.5E-05 0.700 1.000 6 2003 2015
dbSNP: rs76397662
rs76397662
RET
4 0.851 0.200 10 43102345 missense variant G/A snv 7.9E-04 2.9E-04 0.700 1.000 4 1998 2010
dbSNP: rs552057730
rs552057730
RET
1 1.000 0.120 10 43111238 missense variant C/A;T snv 8.0E-06; 1.6E-05 0.700 1.000 3 1998 2003
dbSNP: rs79853121
rs79853121
RET
1 1.000 0.120 10 43126651 missense variant C/A;T snv 3.6E-05 0.700 1.000 3 1998 2003
dbSNP: rs36119840
rs36119840
6 0.807 0.280 5 37816010 missense variant G/A snv 2.3E-03 2.7E-03 0.700 1.000 2 1998 2010
dbSNP: rs8192466
rs8192466
1 1.000 0.120 11 27658560 missense variant G/A;T snv 1.3E-03; 1.6E-04 0.700 1.000 2 2002 2010
dbSNP: rs772448418
rs772448418
1 1.000 0.120 4 41746003 inframe insertion CGCGGCCGCCGCCGCTGCTGC/-;CGCGGCCGCCGCCGCTGCTGCCGCGGCCGCCGCCGCTGCTGC delins 1.2E-04 0.700 1.000 1 2010 2010
dbSNP: rs192489011
rs192489011
RET
1 1.000 0.120 10 43100585 missense variant G/A;T snv 1.1E-03; 4.0E-06 0.700 0
dbSNP: rs267606667
rs267606667
1 1.000 0.120 12 102958296 missense variant C/A snv 0.700 0
dbSNP: rs377767412
rs377767412
RET
7 0.790 0.240 10 43114547 synonymous variant G/A snv 0.700 0
dbSNP: rs587776626
rs587776626
1 1.000 0.120 4 41746133 frameshift variant -/G delins 0.700 0
dbSNP: rs76262710
rs76262710
RET
17 0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs79658334
rs79658334
RET
29 0.662 0.360 10 43119548 missense variant G/A;C;T snv 1.2E-04; 4.3E-06 0.700 0
dbSNP: rs104893855
rs104893855
4 0.851 0.160 4 41747479 missense variant C/A snv 0.010 1.000 1 2014 2014
dbSNP: rs17884724
rs17884724
1 1.000 0.120 4 41745990 synonymous variant T/C;G snv 2.8E-04; 4.7E-05; 4.7E-05; 5.7E-03; 9.3E-05 3.4E-02 0.010 1.000 1 2010 2010