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
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.800 60 2004 2019
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.789 57 2004 2019
dbSNP: rs121913227
rs121913227
31 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.020 1.000 2 2005 2019
dbSNP: rs11225395
rs11225395
11 0.776 0.360 11 102725749 intron variant A/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs699947
rs699947
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.010 1.000 1 2007 2007
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2008 2008
dbSNP: rs13181
rs13181
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2008 2008
dbSNP: rs559635697
rs559635697
1 1.000 0.080 8 23007068 missense variant C/A;T snv 2.8E-05 0.010 1.000 1 2008 2008
dbSNP: rs75873440
rs75873440
RET
10 0.763 0.200 10 43112173 missense variant G/A;T snv 4.4E-05 0.020 1.000 2 2009 2014
dbSNP: rs10754339
rs10754339
3 0.882 0.120 1 117147650 3 prime UTR variant G/A snv 0.88 0.76 0.010 1.000 1 2009 2009
dbSNP: rs371074389
rs371074389
16 0.732 0.320 2 136115226 synonymous variant C/T snv 4.0E-06 4.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs438034
rs438034
4 0.882 0.120 1 214657274 stop gained A/G;T snv 0.61 0.010 1.000 1 2009 2009
dbSNP: rs6990097
rs6990097
3 0.882 0.120 8 9555347 non coding transcript exon variant T/C snv 0.28 0.010 1.000 1 2009 2009
dbSNP: rs746429
rs746429
8 0.882 0.120 11 65649963 synonymous variant G/A snv 0.31 0.30 0.010 < 0.001 1 2009 2009
dbSNP: rs766914563
rs766914563
16 0.732 0.320 2 136115082 synonymous variant C/T snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs781172058
rs781172058
16 0.732 0.320 2 136115340 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs931127
rs931127
12 0.790 0.160 11 65637829 upstream gene variant G/A snv 0.49 0.010 < 0.001 1 2009 2009
dbSNP: rs1256054
rs1256054
3 0.882 0.120 14 64249595 synonymous variant G/C snv 2.8E-03 9.6E-04 0.010 1.000 1 2010 2010
dbSNP: rs1455751791
rs1455751791
3 0.882 0.120 6 152011735 synonymous variant C/G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1800470
rs1800470
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2010 2010
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2011 2016
dbSNP: rs1051740
rs1051740
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2011 2011
dbSNP: rs10814325
rs10814325
7 0.827 0.200 9 36036597 upstream gene variant T/A;C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs1136410
rs1136410
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2011 2011
dbSNP: rs11889031
rs11889031
1 1.000 0.080 2 203934671 upstream gene variant C/T snv 0.15 0.010 1.000 1 2011 2011