ABCC6, ATP binding cassette subfamily C member 6, 368

N. diseases: 181; N. variants: 320
Disease: Abnormality of the eye ×
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: rs63750459
rs63750459 		0.851 0.320 16 16163110 missense variant G/A snv 6.8E-05 6.3E-05
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.700 1.000 1 2003 2003
dbSNP: rs72664237
rs72664237 		1.000 0.160 16 16154732 frameshift variant G/- del 2.8E-05
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.700 1.000 1 2001 2001