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: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2011 2011
dbSNP: rs11125068
rs11125068
EPAS1
1 1.000 0.120 2 46300677 intron variant A/G snv 0.62 0.700 1.000 1 2011 2011
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2011 2011
dbSNP: rs11684885
rs11684885
EPAS1
1 1.000 0.120 2 46306413 intron variant T/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs11689011
rs11689011
EPAS1
2 1.000 0.120 2 46314037 intron variant T/A;C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs17034950
rs17034950
EPAS1
1 1.000 0.120 2 46311655 intron variant G/A snv 0.25 0.700 1.000 1 2011 2011
dbSNP: rs1760944
rs1760944
APEX1 ; OSGEP
26 0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs1800435
rs1800435
ALAD
7 0.827 0.200 9 113391611 missense variant C/G snv 8.3E-02 6.1E-02 0.010 1.000 1 2011 2011
dbSNP: rs1867784
rs1867784
EPAS1
1 1.000 0.120 2 46307081 intron variant T/C snv 0.40 0.700 1.000 1 2011 2011
dbSNP: rs1867785
rs1867785
EPAS1
1 1.000 0.120 2 46307199 intron variant A/G snv 0.52 0.700 1.000 1 2011 2011
dbSNP: rs1867787
rs1867787
EPAS1
1 1.000 0.120 2 46298252 intron variant G/C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs2034327
rs2034327
EPAS1
1 1.000 0.120 2 46321901 intron variant G/C snv 0.59 0.700 1.000 1 2011 2011
dbSNP: rs2044456
rs2044456
EPAS1
1 1.000 0.120 2 46319177 intron variant A/G snv 0.26 0.700 1.000 1 2011 2011
dbSNP: rs2346417
rs2346417
EPAS1
1 1.000 0.120 2 46301822 intron variant T/A snv 0.39 0.700 1.000 1 2011 2011
dbSNP: rs2761016
rs2761016
ALAD
2 0.925 0.120 9 113391072 intron variant T/C snv 0.59 0.010 1.000 1 2011 2011
dbSNP: rs4952818
rs4952818
EPAS1
1 1.000 0.120 2 46309917 intron variant C/T snv 0.39 0.700 1.000 1 2011 2011
dbSNP: rs4953340
rs4953340
EPAS1
1 1.000 0.120 2 46320925 intron variant C/A;G snv 0.700 1.000 1 2011 2011
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2011 2011
dbSNP: rs707889
rs707889
HFE
6 0.827 0.200 6 26095703 3 prime UTR variant G/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2011 2011
dbSNP: rs869025668
rs869025668
VHL
3 0.882 0.240 3 10149964 stop lost G/T snv 0.010 1.000 1 2011 2011
dbSNP: rs9973653
rs9973653
EPAS1
1 1.000 0.120 2 46320970 intron variant G/T snv 0.42 0.700 1.000 1 2011 2011
dbSNP: rs12617313
rs12617313
EPAS1
2 0.925 0.120 2 46332637 intron variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs132774
rs132774
XRCC6
9 0.776 0.280 22 41635949 intron variant C/G snv 0.69 0.010 1.000 1 2012 2012
dbSNP: rs1800645
rs1800645
CALB1
1 1.000 0.120 8 90083245 intron variant A/G;T snv 0.010 1.000 1 2012 2012