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: rs2203002
rs2203002
TFDP2
1 1.000 0.120 3 142077397 intron variant C/T snv 6.4E-02 0.700 1.000 1 2017 2017
dbSNP: rs234043
rs234043
LINC02068
1 1.000 0.120 3 172595577 non coding transcript exon variant T/C snv 0.74 0.700 1.000 1 2017 2017
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: rs35252396
rs35252396
PVT1
1 1.000 0.120 8 127877125 intron variant AC/CG mnv 0.700 1.000 1 2013 2013
dbSNP: rs4662750
rs4662750
MYO7B
1 1.000 0.120 2 127634972 non coding transcript exon variant A/C snv 0.69 0.700 1.000 1 2017 2017
dbSNP: rs4804368
rs4804368
INSR
1 1.000 0.120 19 7190279 intron variant A/G;T snv 0.700 1.000 1 2017 2017
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: rs4953345
rs4953345
EPAS1
1 1.000 0.120 2 46325462 intron variant T/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs59294613
rs59294613
POT1
1 1.000 0.120 7 124914213 intron variant C/A snv 0.28 0.700 1.000 1 2017 2017
dbSNP: rs6470588
rs6470588
PVT1
1 1.000 0.120 8 127877125 intron variant A/C snv 0.53 0.800 1.000 1 2013 2013
dbSNP: rs6470589
rs6470589
PVT1
1 1.000 0.120 8 127877126 intron variant C/A;G snv 0.700 1.000 1 2013 2013
dbSNP: rs72858474
rs72858474
ZEB2
1 1.000 0.120 2 144441322 intron variant G/A snv 6.2E-02 0.700 1.000 1 2013 2013
dbSNP: rs7697932
rs7697932
H2AZ1-DT
1 1.000 0.120 4 100084161 intron variant A/G snv 0.72 0.700 1.000 1 2017 2017
dbSNP: rs7765284
rs7765284 		1 1.000 0.120 6 85068104 intergenic variant C/A snv 0.13 0.700 1.000 1 2013 2013
dbSNP: rs78971134
rs78971134 		1 1.000 0.120 12 107258753 intergenic variant A/G snv 7.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs7913447
rs7913447
ANAPC16
1 1.000 0.120 10 72232282 intron variant C/A;T snv 0.700 1.000 1 2017 2017
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: rs7579899
rs7579899
EPAS1
2 0.925 0.120 2 46310465 intron variant A/G snv 0.52 0.830 1.000 5 2011 2019
dbSNP: rs4765623
rs4765623
SCARB1
2 0.925 0.120 12 124836304 intron variant C/T snv 0.38 0.810 1.000 3 2011 2017
dbSNP: rs11762213
rs11762213
MET
2 0.925 0.120 7 116699228 synonymous variant G/A snv 3.3E-02 3.3E-02 0.020 1.000 2 2013 2014
dbSNP: rs4903064
rs4903064
DPF3
2 0.925 0.120 14 72812712 intron variant T/C snv 0.23 0.710 1.000 2 2017 2019
dbSNP: rs1010980331
rs1010980331
MPRIP ; FLCN
2 0.925 0.120 17 17215072 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs10771279
rs10771279
ITPR2
2 0.925 0.120 12 26377610 intron variant T/A;C snv 0.40 0.010 < 0.001 1 2014 2014
dbSNP: rs1154454
rs1154454
ADH7
2 0.925 0.120 4 99417185 intron variant A/G snv 0.22 0.010 < 0.001 1 2018 2018