ABCC6, ATP binding cassette subfamily C member 6, 368

N. diseases: 181; N. variants: 320
Disease: Cerebrovascular accident ×
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: rs72653706
rs72653706 		0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.710 1.000 1 2010 2010
dbSNP: rs1555517253
rs1555517253 		0.925 0.200 16 16198019 splice acceptor variant CCAGAGATAGACGAAGCAGACCACGATCCAGACGAGAGGCAGCCACAGCCCGTTGAGGTAGAGGACGCTCTCGGTCAGCCGCTGCACGTCCACGGACACCAGATTGACCACATCACCCACCGCACTGGCCTTTCTGGAGCCGCTGGACAGAGCCAGGACCTG/- delins
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs63749796
rs63749796 		0.925 0.200 16 16159505 missense variant C/G snv
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs63751241
rs63751241 		0.882 0.280 16 16154638 missense variant C/T snv 4.0E-05 1.4E-05
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs72664204
rs72664204 		0.925 0.200 16 16203407 splice donor variant AC/- delins 4.0E-06 2.1E-05
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs72664207
rs72664207 		0.882 0.240 16 16185039 splice region variant A/C snv 2.4E-05 1.4E-05
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs754360599
rs754360599 		0.925 0.200 16 16190334 missense variant G/A snv 2.0E-05 1.1E-04
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.700 0