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: rs121434595
rs121434595
NRAS
19 0.708 0.320 1 114716124 missense variant C/A;G;T snv 0.800 0
dbSNP: rs121434623
rs121434623
PTPN12
2 0.925 0.080 7 77571160 missense variant A/G snv 0.700 0
dbSNP: rs1217327426
rs1217327426
PTPRT
1 1.000 0.080 20 42350679 missense variant G/A snv 8.0E-06 1.4E-05 0.700 0
dbSNP: rs121908500
rs121908500
DLC1
1 1.000 0.080 8 13099462 missense variant T/C snv 0.700 0
dbSNP: rs121908567
rs121908567
AXIN2
1 1.000 0.080 17 65536345 stop gained C/A;T snv 0.700 0
dbSNP: rs121909055
rs121909055
BUB1 ; SNORD132
1 1.000 0.080 2 110658451 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs121909242
rs121909242
PPARG
2 0.925 0.080 3 12416825 missense variant A/C snv 0.700 0
dbSNP: rs121909243
rs121909243
PPARG
1 1.000 0.080 3 12416923 stop gained A/T snv 0.700 0
dbSNP: rs121912651
rs121912651
TP53
53 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs121913105
rs121913105
FGFR3
30 0.653 0.600 4 1806163 missense variant A/C;T snv 0.700 0
dbSNP: rs121913111
rs121913111
FGFR3
1 1.000 0.080 4 1803725 missense variant G/A snv 0.800 0
dbSNP: rs121913224
rs121913224
APC
14 0.742 0.200 5 112839515 frameshift variant AAAGA/- delins 0.700 0
dbSNP: rs121913273
rs121913273
PIK3CA
44 0.605 0.440 3 179218294 missense variant G/A;C snv 0.700 0
dbSNP: rs121913274
rs121913274
PIK3CA
33 0.645 0.320 3 179218304 missense variant A/C;G;T snv 0.700 0
dbSNP: rs121913281
rs121913281
PIK3CA
37 0.623 0.520 3 179234296 missense variant C/T snv 0.700 0
dbSNP: rs121913283
rs121913283
PIK3CA
16 0.724 0.440 3 179234286 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs121913286
rs121913286
PIK3CA
23 0.677 0.280 3 179218306 missense variant C/A;G snv 0.700 0
dbSNP: rs121913317
rs121913317
STK11
2 1.000 0.080 19 1220503 stop gained G/A;T snv 0.700 0
dbSNP: rs121913327
rs121913327
APC
3 0.925 0.120 5 112839606 stop gained C/G;T snv 0.700 0
dbSNP: rs121913482
rs121913482
FGFR3
45 0.630 0.680 4 1801837 missense variant C/T snv 0.700 0
dbSNP: rs121913483
rs121913483
FGFR3
31 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.700 0
dbSNP: rs121913527
rs121913527
KRAS
9 0.807 0.320 12 25225628 missense variant C/A;G;T snv 0.700 0
dbSNP: rs121917731
rs121917731
MCC
1 1.000 0.080 5 113043623 missense variant G/A snv 0.800 0
dbSNP: rs121917732
rs121917732
MCC
1 1.000 0.080 5 113064110 missense variant C/T snv 1.2E-05 0.800 0
dbSNP: rs1220386463
rs1220386463
AMDHD2
1 1.000 0.080 16 2528469 missense variant G/A snv 4.0E-06 0.700 0