ABCC6, ATP binding cassette subfamily C member 6, 368

N. diseases: 181; N. variants: 320
Disease: Angioid Streaks ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1002088882
rs1002088882 		0.925 0.200 16 16219834 stop gained C/T snv 7.1E-06
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		Eye Diseases 0.700 0
dbSNP: rs1357894483
rs1357894483 		0.925 0.200 16 16182506 missense variant T/C snv 7.0E-06
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		Eye Diseases 0.700 0
dbSNP: rs1481200467
rs1481200467 		0.925 0.200 16 16173393 stop gained G/C;T snv 4.0E-06 7.0E-06
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		Eye Diseases 0.700 0
dbSNP: rs1555507893
rs1555507893 		0.925 0.200 16 16157675 frameshift variant -/GGAT delins
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		Eye Diseases 0.700 0
dbSNP: rs1555508604
rs1555508604 		0.925 0.200 16 16161437 splice donor variant C/T snv
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		Eye Diseases 0.700 0
dbSNP: rs1555508972
rs1555508972 		0.925 0.200 16 16163129 missense variant A/G snv
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		Eye Diseases 0.700 0
dbSNP: rs1555512158
rs1555512158 		0.925 0.200 16 16177554 missense variant C/G snv
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		Eye Diseases 0.700 0
dbSNP: rs1555512419
rs1555512419 		0.925 0.200 16 16178830 frameshift variant C/- delins
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		Eye Diseases 0.700 0
dbSNP: rs1555513085
rs1555513085 		0.925 0.200 16 16182486 frameshift variant TCTC/- delins
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		Eye Diseases 0.700 0
dbSNP: rs1555513222
rs1555513222 		0.925 0.200 16 16182896 frameshift variant C/- delins
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		Eye Diseases 0.700 0
dbSNP: rs1555514089
rs1555514089 		0.925 0.200 16 16187213 splice acceptor variant T/C snv
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		Eye Diseases 0.700 0
dbSNP: rs1555514439
rs1555514439 		0.925 0.200 16 16188868 frameshift variant TGGGCCTTG/C delins
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		Eye Diseases 0.700 0
dbSNP: rs1555517253
rs1555517253 		0.925 0.200 16 16198019 splice acceptor variant CCAGAGATAGACGAAGCAGACCACGATCCAGACGAGAGGCAGCCACAGCCCGTTGAGGTAGAGGACGCTCTCGGTCAGCCGCTGCACGTCCACGGACACCAGATTGACCACATCACCCACCGCACTGGCCTTTCTGGAGCCGCTGGACAGAGCCAGGACCTG/- delins
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		Eye Diseases 0.700 0
dbSNP: rs1555520991
rs1555520991 		0.925 0.200 16 16212248 splice acceptor variant T/C snv
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		Eye Diseases 0.700 0
dbSNP: rs1555523535
rs1555523535 		0.925 0.200 16 16221822 stop gained G/A snv
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		Eye Diseases 0.700 0
dbSNP: rs1555523841
rs1555523841 		0.882 0.280 16 16223398 splice donor variant C/A snv
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		Eye Diseases 0.700 0
dbSNP: rs2856597
rs2856597 		0.925 0.200 16 16219935 missense variant C/T snv 3.0E-04
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		Eye Diseases 0.700 0
dbSNP: rs28939701
rs28939701 		0.827 0.240 16 16163087 missense variant G/A snv 4.4E-05 3.5E-05
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		Eye Diseases 0.700 0
dbSNP: rs28939702
rs28939702 		0.851 0.320 16 16154899 missense variant G/A;T snv 8.2E-05
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		Eye Diseases 0.700 0
dbSNP: rs368017088
rs368017088 		0.925 0.200 16 16190280 stop gained C/A;G snv 4.0E-06; 1.2E-05
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		Eye Diseases 0.700 0
dbSNP: rs369518454
rs369518454 		0.925 0.200 16 16165721 missense variant C/G;T snv 2.8E-05
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		Eye Diseases 0.700 0
dbSNP: rs387906353
rs387906353 		0.925 0.200 16 16202057 inframe deletion CTGTACATGTTCTGCTGCTCAAACAGCGTTTGC/- delins
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		Eye Diseases 0.700 0
dbSNP: rs55778939
rs55778939 		0.925 0.200 16 16219688 splice region variant C/A;T snv 3.6E-05; 2.6E-02
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		Eye Diseases 0.700 0
dbSNP: rs60791294
rs60791294 		0.882 0.280 16 16163086 missense variant C/G;T snv 7.6E-05
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		Eye Diseases 0.700 0
dbSNP: rs63749796
rs63749796 		0.925 0.200 16 16159505 missense variant C/G snv
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		Eye Diseases 0.700 0