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: rs1057519915
rs1057519915
MTOR
5 0.851 0.160 1 11109318 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519916
rs1057519916
MTOR
4 0.882 0.160 1 11109320 missense variant T/A snv 0.700 1.000 1 2016 2016
dbSNP: rs11554290
rs11554290
NRAS
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 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: 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: 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 2007 2007
dbSNP: rs121913237
rs121913237
NRAS
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121913250
rs121913250
NRAS
25 0.683 0.440 1 114716127 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913255
rs121913255
NRAS
26 0.667 0.400 1 114713907 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs140081212
rs140081212
GBAP1
2 0.925 0.080 1 155215184 non coding transcript exon variant G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2007 2007
dbSNP: rs771803475
rs771803475
EPHA10
1 1.000 0.080 1 37761806 missense variant C/T snv 4.0E-06 2.8E-05 0.700 0
dbSNP: rs781375003
rs781375003
BRDT
1 1.000 0.080 1 91964700 missense variant C/T snv 8.3E-06 7.0E-06 0.700 0
dbSNP: rs922655349
rs922655349
EPHA2
1 1.000 0.080 1 16131867 missense variant C/T snv 0.700 0
dbSNP: rs1057519875
rs1057519875
ACVR1
2 0.925 0.120 2 157770385 missense variant C/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519956
rs1057519956
CNOT9
5 0.827 0.200 2 218583025 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519957
rs1057519957
CNOT9
5 0.827 0.200 2 218583026 missense variant C/G snv 0.700 1.000 1 2016 2016
dbSNP: rs863224846
rs863224846
ACVR1
3 0.882 0.160 2 157770386 missense variant T/C;G snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1003158162
rs1003158162
TTN ; TTN-AS1
1 1.000 0.080 2 178531968 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs199684560
rs199684560
TTN ; TTN-AS1
1 1.000 0.080 2 178633512 missense variant G/A snv 7.3E-05 4.2E-05 0.700 0
dbSNP: rs373526624
rs373526624
TTN ; TTN-AS1
1 1.000 0.080 2 178607095 missense variant C/T snv 7.0E-04 1.6E-04 0.700 0
dbSNP: rs397517769
rs397517769
TTN ; TTN-AS1
1 1.000 0.080 2 178542408 missense variant C/T snv 5.6E-05 1.4E-05 0.700 0
dbSNP: rs539470256
rs539470256
TTN ; TTN-AS1 ; LOC101927055
1 1.000 0.080 2 178779033 missense variant C/T snv 1.3E-04 7.7E-05 0.700 0
dbSNP: rs55713867
rs55713867
TTN ; TTN-AS1
1 1.000 0.080 2 178575658 missense variant A/G snv 0.700 0
dbSNP: rs566841339
rs566841339
SPEG ; ASIC4-AS1
1 1.000 0.080 2 219489128 missense variant G/A snv 2.8E-05 2.8E-05 0.700 0