Source: CURATED ×
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
22 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.770 0.875 2 2003 2017
dbSNP: rs121913377
rs121913377
BRAF
2 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.770 0.875 2 2003 2017
dbSNP: rs1057519803
rs1057519803
ERBB3
2 0.925 0.080 12 56088138 missense variant G/A snv 0.700 1.000 1 2013 2013
dbSNP: rs17280262
rs17280262 		1 14 96587587 upstream gene variant C/T snv 5.1E-02 0.700 1.000 1 2015 2015
dbSNP: rs4812219
rs4812219 		1 20 60847915 intergenic variant C/T snv 0.13 0.700 1.000 1 2015 2015
dbSNP: rs56848936
rs56848936
SYMPK
10 0.776 0.080 19 45818249 intron variant A/G snv 1.9E-02 0.700 1.000 1 2017 2017