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 0.800 0.959 0 2003 2019
dbSNP: rs11175834
rs11175834
LOC100507065 ; LINC02454
2 0.925 0.080 12 65598856 intron variant C/T snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs12990503
rs12990503
DIRC3
2 0.925 0.080 2 217429494 intron variant C/G snv 0.64 0.700 1.000 1 2017 2017
dbSNP: rs1874564
rs1874564
LOC105377294 ; LOC107986291
2 0.925 0.080 4 76936952 intergenic variant G/A snv 0.58 0.700 1.000 1 2017 2017
dbSNP: rs4649295
rs4649295
PCNX2
2 0.925 0.080 1 233280792 intron variant T/C snv 0.60 0.700 1.000 1 2017 2017
dbSNP: rs4915076
rs4915076
VAV3
3 0.882 0.080 1 107816883 intron variant T/C snv 9.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs6996585
rs6996585
NRG1
2 0.925 0.080 8 32543285 intron variant A/G snv 0.37 0.700 1.000 1 2017 2017
dbSNP: rs72753537
rs72753537
TRMO ; LOC112268051
1 1.000 0.080 9 97898464 intergenic variant T/C snv 9.4E-02 0.700 1.000 1 2017 2017
dbSNP: rs9858271
rs9858271
LOC105377110
2 0.925 0.080 3 59559604 intron variant G/A snv 0.80 0.700 1.000 1 2017 2017
dbSNP: rs121909219
rs121909219
PTEN
24 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0
dbSNP: rs751409106
rs751409106
LIG4
1 1.000 0.080 13 108209596 missense variant T/C;G snv 4.0E-06 0.700 0
dbSNP: rs80358683
rs80358683
BRCA2
5 0.851 0.120 13 32338880 stop gained C/T snv 0.700 0