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: rs12163644
rs12163644 		1 1.000 0.080 3 14343616 downstream gene variant G/A snv 8.7E-02 0.700 1.000 1 2020 2020
dbSNP: rs35648237
rs35648237
LDLRAD4
1 1.000 0.080 18 13478722 intron variant A/G snv 8.8E-02 0.700 1.000 1 2020 2020
dbSNP: rs7512080
rs7512080
DDR2
1 1.000 0.080 1 162639948 intron variant A/G snv 4.6E-02 0.700 1.000 1 2020 2020
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 2006 2006
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2006 2006