Source: UNIPROT

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: rs72653759
rs72653759
ABCC6
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: rs72653760
rs72653760
ABCC6
1.000 0.160 16 16202069 missense variant T/C snv 3.2E-04 3.1E-04
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.800 1.000 15 2000 2015
dbSNP: rs72653761
rs72653761
ABCC6
0.925 0.200 16 16202033 missense variant G/A snv 5.2E-05 6.3E-05
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.800 1.000 15 2000 2015
dbSNP: rs72653762
rs72653762
ABCC6
0.851 0.240 16 16202006 missense variant T/C snv 5.6E-03 4.7E-03
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.800 1.000 15 2000 2015
dbSNP: rs72653763
rs72653763
ABCC6
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: rs72653764
rs72653764
ABCC6
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: rs72653766
rs72653766
ABCC6
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: rs72653767
rs72653767
ABCC6
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: rs63751086
rs63751086
ABCC6
0.925 0.200 16 16154973 missense variant C/T snv 3.8E-05 1.1E-04
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.800 0
dbSNP: rs72653794
rs72653794
ABCC6
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: rs6504649
rs6504649
XYLT2
0.882 0.280 17 50360095 missense variant C/G;T snv 0.33; 3.2E-05
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.710 1.000 0 2006 2006
dbSNP: rs3853814
rs3853814
ABCC6P1
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: rs61758388
rs61758388
XYLT1 ; LOC107987234
0.851 0.360 16 17470454 missense variant C/A;G snv 2.7E-02
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.700 0
dbSNP: rs72547524
rs72547524
ABCC6
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