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: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.030 1.000 3 2009 2016
dbSNP: rs3783553
rs3783553
26 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 0.010 1.000 1 2014 2014
dbSNP: rs1453167097
rs1453167097
2 0.925 0.080 17 7675172 missense variant A/C snv 0.010 1.000 1 2016 2016
dbSNP: rs1566734
rs1566734
10 0.807 0.120 11 48123823 missense variant A/C snv 0.17 0.15 0.010 1.000 1 2010 2010
dbSNP: rs377767394
rs377767394
RET
2 0.925 0.080 10 43113603 missense variant A/C snv 0.010 1.000 1 2004 2004
dbSNP: rs3828610
rs3828610
3 0.882 0.160 5 150156062 upstream gene variant A/C snv 0.49 0.010 < 0.001 1 2012 2012
dbSNP: rs6464149
rs6464149
1 1.000 0.080 7 140926036 upstream gene variant A/C snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs712
rs712
24 0.677 0.360 12 25209618 3 prime UTR variant A/C snv 0.46 0.010 1.000 1 2014 2014
dbSNP: rs17879961
rs17879961
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.030 1.000 3 2011 2015
dbSNP: rs2069837
rs2069837
18 0.724 0.520 7 22728408 intron variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 0.959 387 2003 2019
dbSNP: rs1447295
rs1447295
29 0.658 0.400 8 127472793 intron variant A/C;T snv 0.010 < 0.001 1 2012 2012
dbSNP: rs17855750
rs17855750
21 0.695 0.480 16 28503907 missense variant A/C;T snv 6.4E-02; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1867277
rs1867277
10 0.776 0.160 9 97853632 5 prime UTR variant A/G snv 0.63 0.080 0.750 8 2011 2017
dbSNP: rs3787016
rs3787016
24 0.677 0.280 19 1090804 intron variant A/G snv 0.78 0.020 1.000 2 2018 2019
dbSNP: rs10434
rs10434
17 0.701 0.480 6 43785475 3 prime UTR variant A/G snv 0.59 0.010 1.000 1 2017 2017
dbSNP: rs1061758
rs1061758
1 1.000 0.080 9 34652333 intron variant A/G snv 0.76 0.010 1.000 1 2012 2012
dbSNP: rs10741657
rs10741657
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 1.000 1 2012 2012
dbSNP: rs11466653
rs11466653
3 1.000 0.080 4 38774614 missense variant A/G snv 6.4E-02 4.1E-02 0.010 1.000 1 2013 2013
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs1347591
rs1347591
2 1.000 0.080 16 56834788 intron variant A/G snv 0.47 0.47 0.010 1.000 1 2019 2019
dbSNP: rs1420106
rs1420106
5 0.851 0.200 2 102418584 upstream gene variant A/G snv 0.78 0.010 1.000 1 2015 2015
dbSNP: rs1571013
rs1571013
FAS
1 1.000 0.080 10 88998592 intron variant A/G snv 0.40 0.010 1.000 1 2015 2015
dbSNP: rs1800682
rs1800682
32 0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54 0.010 1.000 1 2015 2015
dbSNP: rs2296675
rs2296675
3 1.000 0.080 10 129766734 intron variant A/G snv 0.13 0.010 1.000 1 2017 2017