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: rs1057519770
rs1057519770
JAK3
3 0.882 0.160 19 17843825 missense variant A/G snv 0.700 1.000 1 2008 2008
dbSNP: rs201283129
rs201283129
JAK3
3 0.882 0.160 19 17838329 missense variant C/A;G snv 2.0E-05 0.700 1.000 1 2008 2008
dbSNP: rs758959409
rs758959409
JAK3
3 0.882 0.160 19 17835160 missense variant C/A;T snv 4.0E-06 0.700 1.000 1 2008 2008
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2015 2015