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: rs121913351
rs121913351
BRAF
9 0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06 0.800 1.000 13 2002 2014
dbSNP: rs113488022
rs113488022
BRAF
22 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.750 1.000 12 2002 2018
dbSNP: rs1057519720
rs1057519720
BRAF
2 0.851 0.080 7 140781602 missense variant CC/AA;GA mnv 0.700 1.000 9 2002 2013
dbSNP: rs121913369
rs121913369
BRAF
8 0.790 0.280 7 140753346 missense variant G/A;C snv 4.0E-06 0.700 1.000 9 2002 2013
dbSNP: rs1057519719
rs1057519719
BRAF
1 1.000 0.080 7 140781593 missense variant T/C snv 0.700 1.000 8 2002 2013
dbSNP: rs121913355
rs121913355
BRAF
34 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 8 2002 2013
dbSNP: rs121913529
rs121913529
KRAS
21 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.800 0.933 3 2010 2019
dbSNP: rs115707823
rs115707823 		19 0.701 0.320 6 30374976 intergenic variant G/A snv 0.700 1.000 2 2016 2017
dbSNP: rs147680653
rs147680653 		17 0.708 0.280 6 29785031 intergenic variant A/G snv 0.700 1.000 2 2016 2017
dbSNP: rs1057520015
rs1057520015
ROCK1
2 1.000 0.080 18 20955181 missense variant G/A snv 0.700 1.000 1 2010 2010
dbSNP: rs1057520037
rs1057520037
EGFR
1 1.000 0.080 7 55174782 missense variant G/C snv 0.700 1.000 1 2005 2005
dbSNP: rs1057941
rs1057941
GBAP1
18 0.701 0.280 1 155216951 non coding transcript exon variant G/A;T snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs11168936
rs11168936
TUBA1C
17 0.708 0.280 12 49251457 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs114002231
rs114002231 		1 1.000 0.080 6 31459618 intron variant G/C snv 0.700 1.000 1 2017 2017
dbSNP: rs114385935
rs114385935
LINC00533 ; LOC105374996
1 1.000 0.080 6 28651576 upstream gene variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs114393147
rs114393147 		1 1.000 0.080 6 33157965 downstream gene variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs114601353
rs114601353 		1 1.000 0.080 6 30389517 intergenic variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs114828403
rs114828403 		1 1.000 0.080 6 32809144 downstream gene variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs115100928
rs115100928 		1 1.000 0.080 6 32419655 intergenic variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs115287935
rs115287935
ZNF311
1 1.000 0.080 6 29006488 upstream gene variant G/T snv 0.700 1.000 1 2017 2017
dbSNP: rs115392158
rs115392158
HLA-B
17 0.708 0.280 6 31347004 intron variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs115613607
rs115613607 		1 1.000 0.080 6 32413503 regulatory region variant G/C snv 0.700 1.000 1 2017 2017
dbSNP: rs115666025
rs115666025
MUC22
1 1.000 0.080 6 31009903 upstream gene variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs115729734
rs115729734
HLA-A
1 1.000 0.080 6 29931238 upstream gene variant T/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs115819854
rs115819854 		1 1.000 0.080 6 32683864 intergenic variant G/T snv 0.700 1.000 1 2017 2017