Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387906859
rs387906859
0.925 0.160 16 16150765 missense variant G/T snv
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
0.800 1.000 15 2000 2015
dbSNP: rs63750018
rs63750018
1.000 0.160 16 16154776 missense variant C/G snv
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
0.800 1.000 15 2000 2015
dbSNP: rs63750125
rs63750125
1.000 0.160 16 16159541 missense variant G/T snv
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
0.800 1.000 15 2000 2015
dbSNP: rs63750295
rs63750295
1.000 0.160 16 16150710 missense variant A/G snv
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
0.800 1.000 15 2000 2015
dbSNP: rs63750414
rs63750414
0.925 0.200 16 16154910 missense variant A/G;T snv
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
0.800 1.000 15 2000 2015
dbSNP: rs63750473
rs63750473
1.000 0.160 16 16163101 missense variant C/G snv
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
0.800 1.000 15 2000 2015
dbSNP: rs63750607
rs63750607
1.000 0.160 16 16161463 missense variant C/T snv
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
0.800 1.000 15 2000 2015
dbSNP: rs67996819
rs67996819
1.000 0.160 16 16192898 missense variant C/G snv
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
0.800 1.000 15 2000 2015
dbSNP: rs72653764
rs72653764
1.000 0.160 16 16198167 missense variant T/C snv
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
0.800 1.000 15 2000 2015
dbSNP: rs72653767
rs72653767
1.000 0.160 16 16192873 missense variant A/T snv
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
0.800 1.000 15 2000 2015
dbSNP: rs3853814
rs3853814
1.000 0.160 16 18575053 non coding transcript exon variant A/G snv
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
0.700 0
dbSNP: rs72653758
rs72653758
0.925 0.160 16 16202113 missense variant A/C snv 4.0E-06
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
0.800 1.000 15 2000 2015
dbSNP: rs63750427
rs63750427
0.882 0.200 16 16163158 missense variant C/G;T snv 4.0E-06; 1.2E-05
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
0.800 1.000 15 2000 2015
dbSNP: rs72653766
rs72653766
1.000 0.160 16 16198041 missense variant A/C;G snv 4.0E-06
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
0.800 1.000 15 2000 2015
dbSNP: rs58695352
rs58695352
1.000 0.160 16 16154755 missense variant C/A;T snv 4.1E-06; 1.2E-05
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
0.800 1.000 15 2000 2015
dbSNP: rs63750622
rs63750622
0.925 0.200 16 16154898 missense variant C/A;G;T snv 4.1E-06; 4.1E-06; 1.6E-05
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
0.800 1.000 15 2000 2015
dbSNP: rs63750759
rs63750759
0.851 0.280 16 16154974 missense variant G/A;T snv 1.9E-04; 5.4E-06
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
0.810 1.000 15 2000 2015
dbSNP: rs63750410
rs63750410
0.882 0.240 16 16155007 missense variant C/G;T snv 6.0E-06; 1.2E-05
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
0.800 1.000 15 2000 2015
dbSNP: rs72653763
rs72653763
1.000 0.160 16 16202001 missense variant C/A;G snv 8.0E-06
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
0.800 1.000 15 2000 2015
dbSNP: rs72547524
rs72547524
1.000 0.160 16 16150606 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
0.700 0
dbSNP: rs63750494
rs63750494
1.000 0.160 16 16155012 missense variant G/A snv 1.8E-05
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
0.800 1.000 15 2000 2015
dbSNP: rs72653759
rs72653759
0.925 0.200 16 16202086 missense variant G/A;C snv 3.2E-05; 2.0E-05
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
0.800 1.000 15 2000 2015
dbSNP: rs72653794
rs72653794
0.882 0.280 16 16177622 missense variant C/T snv 2.4E-05 2.8E-05
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
0.800 0
dbSNP: rs63750457
rs63750457
0.925 0.200 16 16163008 missense variant C/T snv 2.4E-05 2.1E-05
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
0.800 1.000 15 2000 2015
dbSNP: rs67470842
rs67470842
0.925 0.200 16 16182856 missense variant A/G snv 2.4E-05 7.0E-06
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
0.800 1.000 15 2000 2015