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: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.030 1.000 3 2005 2008
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.030 1.000 3 2005 2008
dbSNP: rs12647691
rs12647691
ANTXR2
1 1.000 0.040 4 79984836 missense variant C/A;G;T snv 3.0E-05; 0.77; 3.4E-05 0.010 1.000 1 2015 2015