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: rs10165970
rs10165970
NPAS2
18 0.708 0.320 2 100840527 intron variant G/A snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs17024869
rs17024869
NPAS2
18 0.708 0.320 2 100843581 intron variant T/C snv 8.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs895520
rs895520
NPAS2
23 0.689 0.320 2 100961475 intron variant G/A snv 0.35 0.010 1.000 1 2017 2017
dbSNP: rs7581886
rs7581886
NPAS2
18 0.708 0.320 2 100964784 intron variant C/T snv 0.92 0.010 1.000 1 2017 2017
dbSNP: rs2305160
rs2305160
NPAS2 ; NPAS2-AS1
9 0.776 0.200 2 100974842 missense variant A/G snv 0.71 0.75 0.010 1.000 1 2007 2007
dbSNP: rs121434596
rs121434596
NRAS
26 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121434595
rs121434595
NRAS
19 0.708 0.320 1 114716124 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 1.000 5 2008 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 0.800 5 2006 2018
dbSNP: rs16917496
rs16917496
KMT5A
21 0.689 0.360 12 123409283 3 prime UTR variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1057519918
rs1057519918
MYC ; CASC11
5 0.851 0.200 8 127738390 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs750664148
rs750664148
MYC ; CASC11
5 0.851 0.200 8 127738434 missense variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs756091827
rs756091827
MYC ; CASC11
6 0.851 0.200 8 127738435 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2167270
rs2167270
LEP
17 0.724 0.280 7 128241296 5 prime UTR variant G/A snv 0.37 0.010 1.000 1 2014 2014
dbSNP: rs2070673
rs2070673
CYP2E1 ; LOC107984284
5 0.827 0.160 10 133527063 non coding transcript exon variant A/T snv 0.67 0.010 1.000 1 2011 2011
dbSNP: rs2230926
rs2230926
TNFAIP3
27 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 0.010 1.000 1 2018 2018
dbSNP: rs121913338
rs121913338
BRAF
24 0.677 0.400 7 140753354 missense variant T/A;C;G snv 0.800 1.000 1 2003 2003
dbSNP: rs121913355
rs121913355
BRAF
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.800 1.000 1 2003 2003
dbSNP: rs121913357
rs121913357
BRAF
12 0.742 0.320 7 140781603 stop gained C/A;G;T snv 0.800 1.000 1 2003 2003
dbSNP: rs75002266
rs75002266
ORC4
6 0.827 0.160 2 147939241 missense variant G/A snv 3.2E-03 3.0E-03 0.010 1.000 1 2009 2009
dbSNP: rs267601394
rs267601394
EZH2
8 0.807 0.200 7 148811635 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs267601395
rs267601395
EZH2
7 0.925 0.160 7 148811636 missense variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519894
rs1057519894
EZH2
2 0.925 0.160 7 148811650 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1801274
rs1801274
FCGR2A
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.010 1.000 1 2006 2006
dbSNP: rs1057519942
rs1057519942
PIK3CA
16 0.724 0.320 3 179203760 missense variant G/A snv 0.700 1.000 1 2016 2016