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: rs1002088882
rs1002088882
ABCC6
0.925 0.200 16 16219834 stop gained C/T snv 7.1E-06
CUI: C0241148
Disease: Cutaneous plaque
Cutaneous plaque 		0.700 0
dbSNP: rs1002088882
rs1002088882
ABCC6
0.925 0.200 16 16219834 stop gained C/T snv 7.1E-06
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.700 0
dbSNP: rs1002088882
rs1002088882
ABCC6
0.925 0.200 16 16219834 stop gained C/T snv 7.1E-06
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		0.700 0
dbSNP: rs1002088882
rs1002088882
ABCC6
0.925 0.200 16 16219834 stop gained C/T snv 7.1E-06
CUI: C0332563
Disease: Papule
Papule 		0.700 0