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: rs996807218
rs996807218
KIDINS220
4 0.882 0.080 2 8827045 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs9858271
rs9858271
LOC105377110
2 0.925 0.080 3 59559604 intron variant G/A snv 0.80 0.700 1.000 1 2017 2017
dbSNP: rs966513
rs966513
EPHB1 ; LOC102724019
1 1.000 0.080 3 135147609 intron variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs966423
rs966423
DIRC3
11 0.776 0.200 2 217445617 intron variant C/G;T snv 0.030 0.667 3 2013 2019
dbSNP: rs965513
rs965513
PTCSC2
15 0.742 0.200 9 97793827 intron variant A/G;T snv 0.100 0.917 12 2011 2017
dbSNP: rs949963
rs949963
IL1R1
3 0.925 0.160 2 102153326 intron variant C/T snv 0.22 0.010 < 0.001 1 2012 2012
dbSNP: rs944289
rs944289 		16 0.742 0.200 14 36180040 upstream gene variant C/T snv 0.45 0.100 0.833 12 2010 2019
dbSNP: rs927650
rs927650
CYP24A1
9 0.763 0.240 20 54156202 intron variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs925489
rs925489
PTCSC2
6 0.882 0.080 9 97784318 intron variant C/T snv 0.71 0.010 1.000 1 2014 2014
dbSNP: rs920778
rs920778
HOTAIR
36 0.633 0.480 12 53966448 intron variant G/A snv 0.57 0.010 1.000 1 2016 2016
dbSNP: rs894673
rs894673
PTCSC2
1 1.000 0.080 9 97849988 intron variant A/T snv 0.63 0.010 1.000 1 2015 2015
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.030 1.000 3 2009 2016
dbSNP: rs864622088
rs864622088
PTCH1
2 0.925 0.080 9 95459774 missense variant G/T snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.020 1.000 2 2016 2018
dbSNP: rs80358683
rs80358683
BRCA2
5 0.851 0.120 13 32338880 stop gained C/T snv 0.700 0
dbSNP: rs79658334
rs79658334
RET
29 0.662 0.360 10 43119548 missense variant G/A;C;T snv 1.2E-04; 4.3E-06 0.030 1.000 3 2009 2012
dbSNP: rs79402775
rs79402775
ATF2 ; MIR933
5 0.827 0.200 2 175167648 mature miRNA variant G/A;T snv 4.4E-02; 1.0E-05 0.010 1.000 1 2015 2015
dbSNP: rs782237788
rs782237788
NCOA4
2 1.000 0.080 10 46009499 missense variant T/C snv 4.0E-06 0.020 1.000 2 2007 2012
dbSNP: rs7810757
rs7810757
BRAF ; LOC105375536
1 1.000 0.080 7 140925302 upstream gene variant T/C snv 0.15 0.010 1.000 1 2019 2019
dbSNP: rs776894974
rs776894974
F9
1 1.000 0.080 X 139537051 missense variant C/T snv 1.6E-05 0.010 < 0.001 1 2019 2019
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: rs767654905
rs767654905
RET
1 1.000 0.080 10 43105012 missense variant T/C snv 4.5E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs765069734
rs765069734
ADRA2B
1 1.000 0.080 2 96115436 synonymous variant G/A;C snv 8.1E-06 0.010 1.000 1 2016 2016
dbSNP: rs763538721
rs763538721
HIF1A ; HIF1A-AS3
8 0.807 0.160 14 61740897 missense variant T/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs763203190
rs763203190
P2RX1
1 1.000 0.080 17 3903963 synonymous variant G/A snv 1.2E-05 0.010 1.000 1 2009 2009