Source: CLINVAR

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: rs1006994885
rs1006994885
ABCC6
1.000 0.160 16 16150577 splice donor variant C/A;G snv
CUI: C0332563
Disease: Papule
Papule 		0.700 0
dbSNP: rs1006994885
rs1006994885
ABCC6
1.000 0.160 16 16150577 splice donor variant C/A;G snv
CUI: C1867453
Disease: Peau d'orange retinal changes
Peau d'orange retinal changes 		0.700 0
dbSNP: rs1006994885
rs1006994885
ABCC6
1.000 0.160 16 16150577 splice donor variant C/A;G snv
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.700 0
dbSNP: rs1006994885
rs1006994885
ABCC6
1.000 0.160 16 16150577 splice donor variant C/A;G snv
CUI: C0021775
Disease: Intermittent Claudication
Intermittent Claudication 		0.700 0
dbSNP: rs1006994885
rs1006994885
ABCC6
1.000 0.160 16 16150577 splice donor variant C/A;G snv
CUI: C0241148
Disease: Cutaneous plaque
Cutaneous plaque 		0.700 0