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: rs1057519720
rs1057519720
BRAF
2 0.851 0.080 7 140781602 missense variant CC/AA;GA mnv 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: rs121909071
rs121909071
SLC22A18
1 1.000 0.080 11 2918030 missense variant C/T snv 7.0E-06 0.800 1.000 5 2013 2014
dbSNP: rs8034191
rs8034191
HYKK
8 0.695 0.440 15 78513681 intron variant T/C snv 0.27 0.800 0.833 4 2008 2017
dbSNP: rs4488809
rs4488809
TP63
2 0.827 0.080 3 189638472 intron variant T/C snv 0.45 0.750 1.000 3 2011 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: rs2736100
rs2736100
TERT
16 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.800 1.000 2 2010 2015
dbSNP: rs3117582
rs3117582
BAG6 ; APOM
8 0.716 0.440 6 31652743 intron variant T/G snv 7.1E-02 0.760 1.000 2 2008 2017
dbSNP: rs380286
rs380286
CLPTM1L
6 0.776 0.200 5 1320132 intron variant G/A snv 0.47 0.710 1.000 2 2014 2019
dbSNP: rs55781567
rs55781567
CHRNA5
7 0.851 0.080 15 78565644 5 prime UTR variant C/G snv 0.31 0.700 1.000 2 2016 2017
dbSNP: rs56404467
rs56404467
FRY
17 0.708 0.280 13 32265853 intron variant G/A snv 1.3E-02 0.700 1.000 2 2016 2017
dbSNP: rs1011970
rs1011970
CDKN2B-AS1
18 0.677 0.320 9 22062135 intron variant G/T snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs10436951
rs10436951
CEP170
1 1.000 0.080 1 243199378 intron variant A/G snv 7.1E-02 0.700 1.000 1 2017 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: rs10849605
rs10849605
RAD52
2 0.882 0.080 12 955272 intron variant T/C snv 0.49 0.700 1.000 1 2012 2012
dbSNP: rs11008347
rs11008347
MALRD1
1 1.000 0.080 10 19072094 intron variant C/G snv 0.12 0.700 1.000 1 2018 2018
dbSNP: rs11119608
rs11119608
KCNH1
17 0.708 0.280 1 210816167 intron variant T/G snv 0.21 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: rs11200014
rs11200014
FGFR2
17 0.695 0.280 10 121575416 intron variant G/A;T snv 0.34 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