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: rs121913483
rs121913483
FGFR3
31 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.010 1.000 1 2007 2007
dbSNP: rs1287276985
rs1287276985
VEGFA
7 0.790 0.200 6 43782020 missense variant T/A;C snv 4.0E-06; 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1.000 1 2009 2009
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2009 2009
dbSNP: rs3756712
rs3756712
PDCD6 ; AHRR
10 0.790 0.160 5 308981 non coding transcript exon variant A/C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs4957014
rs4957014
PDCD6 ; AHRR
11 0.752 0.160 5 287899 intron variant T/G snv 0.74 0.010 1.000 1 2014 2014