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: rs747463591
rs747463591
CCDC6
3 0.882 0.080 10 59906391 missense variant C/A;G;T snv 4.9E-06; 9.9E-06 0.010 1.000 1 2015 2015
dbSNP: rs768891111
rs768891111
KLC1 ; XRCC3
4 0.851 0.080 14 103699474 stop gained C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs776935407
rs776935407
SGSM3
6 0.851 0.080 22 40409261 missense variant T/A snv 4.1E-06 0.010 1.000 1 2011 2011
dbSNP: rs779791579
rs779791579
PTCH1
3 0.882 0.080 9 95508325 missense variant G/C snv 7.8E-04 6.1E-04 0.010 1.000 1 2015 2015
dbSNP: rs78081605
rs78081605
TSHZ1
2 0.925 0.080 18 75288051 missense variant G/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs78201625
rs78201625
HABP2
4 0.851 0.080 10 113577182 missense variant C/T snv 2.4E-03 1.8E-03 0.010 1.000 1 2018 2018
dbSNP: rs78929565
rs78929565
CLOCK
3 0.882 0.080 4 55539035 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs907580
rs907580 		4 0.851 0.080 9 97860315 downstream gene variant T/A;C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs996807218
rs996807218
KIDINS220
4 0.882 0.080 2 8827045 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs116909374
rs116909374 		11 0.776 0.120 14 36269155 regulatory region variant C/T snv 2.3E-02 0.040 0.750 4 2012 2016
dbSNP: rs11214077
rs11214077
SDHD ; TIMM8B
12 0.752 0.120 11 112087953 missense variant A/G snv 6.6E-03 6.7E-03 0.010 1.000 1 2017 2017
dbSNP: rs147394161
rs147394161
RAP1GAP
2 0.925 0.120 1 21598453 missense variant T/C snv 9.5E-03 1.0E-02 0.010 < 0.001 1 2010 2010
dbSNP: rs1946519
rs1946519
IL18
4 0.851 0.120 11 112164784 intron variant A/C snv 0.60 0.010 1.000 1 2015 2015
dbSNP: rs33917957
rs33917957
MET
10 0.790 0.120 7 116700208 missense variant A/G snv 2.7E-02 1.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs34677591
rs34677591
SDHD ; TIMM8B
12 0.742 0.120 11 112086941 missense variant G/A snv 7.5E-03 7.0E-03 0.010 1.000 1 2017 2017
dbSNP: rs360718
rs360718
IL18
5 0.827 0.120 11 112164016 5 prime UTR variant A/C snv 0.26 0.010 1.000 1 2015 2015
dbSNP: rs377767427
rs377767427
RET
3 0.882 0.120 10 43120114 missense variant C/G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs778212685
rs778212685
CHEK2
8 0.827 0.120 22 28712015 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs786203472
rs786203472
CHEK2
5 0.827 0.120 22 28719414 start lost T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs863224748
rs863224748
CHEK2
5 0.827 0.120 22 28734721 start lost T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs1867277
rs1867277
FOXE1 ; PTCSC2
10 0.776 0.160 9 97853632 5 prime UTR variant A/G snv 0.63 0.050 1.000 5 2009 2015
dbSNP: rs77709286
rs77709286
RET
12 0.752 0.160 10 43114502 missense variant C/G snv 4.0E-06 0.700 1.000 4 2010 2012
dbSNP: rs1057519736
rs1057519736
IDH2
13 0.752 0.160 15 90088605 missense variant C/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1169803481
rs1169803481
EGFR
7 0.807 0.160 7 55198851 missense variant A/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs12628
rs12628
HRAS ; LRRC56
10 0.776 0.160 11 534242 synonymous variant A/G snv 0.32 0.34 0.010 1.000 1 2013 2013