ABCC6, ATP binding cassette subfamily C member 6, 368

N. diseases: 181; N. variants: 320
Disease: LDLR mutation ×
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: C3888506
Disease: LDLR mutation
LDLR mutation 		0.010 1.000 1 2010 2010
dbSNP: rs78678589
rs78678589 		0.925 0.160 16 16203457 missense variant G/C;T snv 1.6E-05
CUI: C3888506
Disease: LDLR mutation
LDLR mutation 		0.010 1.000 1 2010 2010