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: rs1554317002
rs1554317002
45 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
dbSNP: rs1555307370
rs1555307370
4 0.882 0.160 12 23740986 stop gained G/A snv 0.700 0
dbSNP: rs1555738475
rs1555738475
12 0.776 0.400 19 1220707 frameshift variant G/- delins 0.700 0
dbSNP: rs1564494285
rs1564494285
RET
6 0.882 0.200 10 43111219 frameshift variant TG/- delins 0.700 0
dbSNP: rs1566304640
rs1566304640
8 0.827 0.280 13 77900593 missense variant G/A snv 0.700 0
dbSNP: rs587784347
rs587784347
38 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs781214034
rs781214034
10 0.790 0.320 13 77903538 missense variant C/T snv 1.3E-04 2.8E-05 0.700 0
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.030 1.000 3 2008 2018
dbSNP: rs855791
rs855791
38 0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 0.030 1.000 3 2012 2018
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1161457931
rs1161457931
9 0.763 0.200 22 37084836 missense variant C/T snv 6.4E-06 0.010 1.000 1 2018 2018
dbSNP: rs1208663703
rs1208663703
9 0.763 0.200 22 37086414 missense variant T/C snv 5.2E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2015 2015
dbSNP: rs1799899
rs1799899
TF
2 1.000 0.080 3 133756968 missense variant G/A snv 5.2E-02 4.5E-02 0.010 1.000 1 2001 2001
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2018 2018
dbSNP: rs235756
rs235756
2 1.000 0.080 20 6786464 intergenic variant A/C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs3811647
rs3811647
TF
15 0.807 0.120 3 133765185 intron variant G/A snv 0.31 0.010 1.000 1 2012 2012
dbSNP: rs4820268
rs4820268
14 0.851 0.160 22 37073551 missense variant G/A;C snv 0.53; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs733655
rs733655
6 0.827 0.240 22 37099011 intron variant T/C snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs7385804
rs7385804
14 0.851 0.120 7 100638347 intron variant C/A snv 0.65 0.010 1.000 1 2012 2012