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: C0002982
Disease: Angioid Streaks
Angioid Streaks 		0.700 0
dbSNP: rs1357894483
rs1357894483
ABCC6
0.925 0.200 16 16182506 missense variant T/C snv 7.0E-06
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		0.700 0
dbSNP: rs1555507893
rs1555507893
ABCC6
0.925 0.200 16 16157675 frameshift variant -/GGAT delins
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		0.700 0
dbSNP: rs1555508604
rs1555508604
ABCC6
0.925 0.200 16 16161437 splice donor variant C/T snv
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		0.700 0
dbSNP: rs1555508972
rs1555508972
ABCC6
0.925 0.200 16 16163129 missense variant A/G snv
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		0.700 0
dbSNP: rs1555512158
rs1555512158
ABCC6
0.925 0.200 16 16177554 missense variant C/G snv
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		0.700 0
dbSNP: rs1555512419
rs1555512419
ABCC6
0.925 0.200 16 16178830 frameshift variant C/- delins
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		0.700 0
dbSNP: rs1555513085
rs1555513085
ABCC6
0.925 0.200 16 16182486 frameshift variant TCTC/- delins
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		0.700 0
dbSNP: rs1555513222
rs1555513222
ABCC6
0.925 0.200 16 16182896 frameshift variant C/- delins
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		0.700 0
dbSNP: rs1555514089
rs1555514089
ABCC6
0.925 0.200 16 16187213 splice acceptor variant T/C snv
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		0.700 0
dbSNP: rs1555514439
rs1555514439
ABCC6
0.925 0.200 16 16188868 frameshift variant TGGGCCTTG/C delins
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		0.700 0
dbSNP: rs1555517253
rs1555517253
ABCC6
0.925 0.200 16 16198019 splice acceptor variant CCAGAGATAGACGAAGCAGACCACGATCCAGACGAGAGGCAGCCACAGCCCGTTGAGGTAGAGGACGCTCTCGGTCAGCCGCTGCACGTCCACGGACACCAGATTGACCACATCACCCACCGCACTGGCCTTTCTGGAGCCGCTGGACAGAGCCAGGACCTG/- delins
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		0.700 0
dbSNP: rs1555520991
rs1555520991
ABCC6 ; LOC105371100
0.925 0.200 16 16212248 splice acceptor variant T/C snv
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		0.700 0
dbSNP: rs1555523535
rs1555523535
ABCC6
0.925 0.200 16 16221822 stop gained G/A snv
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		0.700 0
dbSNP: rs1555523841
rs1555523841
ABCC6
0.882 0.280 16 16223398 splice donor variant C/A snv
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		0.700 0
dbSNP: rs2856597
rs2856597
ABCC6
0.925 0.200 16 16219935 missense variant C/T snv 3.0E-04
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		0.700 0
dbSNP: rs387906353
rs387906353
ABCC6
0.925 0.200 16 16202057 inframe deletion CTGTACATGTTCTGCTGCTCAAACAGCGTTTGC/- delins
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		0.700 0
dbSNP: rs63749796
rs63749796
ABCC6
0.925 0.200 16 16159505 missense variant C/G snv
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		0.700 0
dbSNP: rs63750414
rs63750414
ABCC6
0.925 0.200 16 16154910 missense variant A/G;T snv
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		0.700 0
dbSNP: rs66492417
rs66492417
ABCC6
0.882 0.240 16 16178909 stop gained G/T snv
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		0.700 0
dbSNP: rs72653746
rs72653746
ABCC6
0.925 0.200 16 16159508 stop gained G/A snv 1.4E-05
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		0.700 0
dbSNP: rs72653773
rs72653773
ABCC6
0.925 0.200 16 16190196 missense variant A/G snv 7.0E-06
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		0.700 0
dbSNP: rs72653786
rs72653786
ABCC6
0.882 0.280 16 16178961 missense variant A/G;T snv
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		0.700 0
dbSNP: rs72664208
rs72664208
ABCC6
0.882 0.240 16 16182799 splice region variant C/T snv 7.0E-06
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		0.700 0
dbSNP: rs72664218
rs72664218
ABCC6
0.925 0.200 16 16187133 frameshift variant -/G delins
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		0.700 0