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: rs61734277
rs61734277
2 1.000 0.036 6 10874672 missense variant A/C snp 9.1E-03 8.0E-03 0.010 1.000 1 2015 2015
dbSNP: rs7652589
rs7652589
3 0.878 0.143 3 122170241 intergenic variant A/G snp 0.58 0.010 1.000 1 2011 2011
dbSNP: rs1801725
rs1801725
17 0.707 0.357 3 122284910 missense variant G/T snp 0.13 0.10 0.020 1.000 2 2001 2013
dbSNP: rs1042636
rs1042636
15 0.715 0.286 3 122284922 missense variant A/G snp 0.15 0.10 0.040 1.000 4 2001 2013
dbSNP: rs1801726
rs1801726
6 0.801 0.214 3 122284985 missense variant G/C snp 0.95 0.92 0.020 1.000 2 2001 2007
dbSNP: rs551236750
rs551236750
1 1.000 0.036 12 12717760 5 prime UTR variant C/T snp 2.9E-04 0.700 1 2015 2015
dbSNP: rs6256
rs6256
PTH
1 1.000 0.036 11 13492506 stop gained G/A,T snp 4.0E-06; 0.16 0.13 0.700 2 1992 2008
dbSNP: rs111033566
rs111033566
9 0.784 0.071 7 142750600 missense variant A/C,T snp 0.010 1.000 1 2008 2008
dbSNP: rs111033565
rs111033565
7 0.784 0.071 7 142751938 missense variant G/A snp 1.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs267606982
rs267606982
10 0.769 0.071 7 142751938 missense variant GC/AT multinucleotide-polymorphism 0.010 1.000 1 2008 2008
dbSNP: rs17107315
rs17107315
32 0.634 0.321 5 147828115 missense variant T/C snp 9.1E-03 8.8E-03 0.010 1.000 1 2008 2008
dbSNP: rs121913228
rs121913228
15 0.724 0.214 3 41224621 missense variant T/C,G snp 0.010 1.000 1 2007 2007
dbSNP: rs77724903
rs77724903
RET
12 0.734 0.214 10 43118460 missense variant A/G,T snp 4.0E-06; 2.1E-03 2.6E-03 0.020 0.500 2 2005 2006
dbSNP: rs79658334
rs79658334
RET
19 0.685 0.321 10 43119548 missense variant G/A,C,T snp 1.2E-04; 4.3E-06 2.2E-04 0.010 1.000 1 2008 2008
dbSNP: rs869312167
rs869312167
1 1.000 0.036 11 64809958 frameshift variant GT/G in-del 0.700 1 2015 2015
dbSNP: rs775437927
rs775437927
3 0.878 0.071 16 84849390 missense variant G/A snp 6.0E-05 0.010 1.000 1 2008 2008
dbSNP: rs35153102
rs35153102
10 0.756 0.107 16 84873122 missense variant G/A snp 0.010 1.000 1 2008 2008