Source: ALL
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: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs1058818
rs1058818
TTTY14
2 0.925 0.200 Y 18991654 intron variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1058881
rs1058881
TTTY14
2 0.925 0.200 Y 18991085 intron variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs11283943
rs11283943
MCC
4 0.882 0.160 5 113071088 splice donor variant -/CGCACTGTCTTCCT;CGCGCTGTCTTCCT;CGTGCTGTCTTCCT delins 0.010 1.000 1 2011 2011
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs11541796
rs11541796
TTR
9 0.807 0.280 18 31593011 missense variant A/G snv 0.010 1.000 1 1994 1994
dbSNP: rs1179254201
rs1179254201
APC
2 0.925 0.200 5 112767213 missense variant T/C snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1182822563
rs1182822563
APC
2 0.925 0.200 5 112828939 synonymous variant A/G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs11954856
rs11954856
APC
12 0.732 0.200 5 112751630 intron variant T/G snv 0.54 0.010 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs121913364
rs121913364
BRAF
34 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 < 0.001 1 2007 2007
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs121918068
rs121918068
TTR
6 0.882 0.200 18 31592983 missense variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs121918079
rs121918079
TTR
10 0.790 0.280 18 31595143 missense variant T/C snv 0.010 1.000 1 1999 1999
dbSNP: rs121918080
rs121918080
TTR
6 0.827 0.240 18 31595128 missense variant G/A;T snv 2.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs121918081
rs121918081
TTR
3 0.925 0.200 18 31595124 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs121918082
rs121918082
TTR
6 0.827 0.280 18 31595244 missense variant G/C snv 0.010 < 0.001 1 2016 2016
dbSNP: rs121918090
rs121918090
TTR
8 0.790 0.240 18 31593026 missense variant G/C snv 0.010 1.000 1 2002 2002
dbSNP: rs1331131200
rs1331131200
APC
2 0.925 0.200 5 112827976 synonymous variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
13 0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03 0.010 1.000 1 2019 2019
dbSNP: rs150973053
rs150973053
APC
4 0.851 0.200 5 112767356 missense variant A/G snv 3.5E-04 2.7E-04 0.010 1.000 1 2008 2008
dbSNP: rs1761667
rs1761667
CD36
12 0.752 0.320 7 80615623 intron variant G/A snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs1800458
rs1800458
TTR
5 0.851 0.280 18 31592902 missense variant G/A snv 5.1E-02 5.2E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs1805105
rs1805105
AXIN1
11 0.776 0.280 16 346264 synonymous variant A/G snv 0.61 0.69 0.010 1.000 1 2019 2019