Source: BEFREE ×
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: rs121913482
rs121913482
FGFR3
14 0.630 0.680 4 1801837 missense variant C/T snv 0.840 1.000 4 2006 2011
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
23 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.710 1.000 1 2019 2019
dbSNP: rs121913274
rs121913274
PIK3CA
4 0.645 0.320 3 179218304 missense variant A/C;G;T snv 0.710 1.000 1 2007 2007
dbSNP: rs121913529
rs121913529
KRAS
135 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.710 1.000 1 2010 2010