COX7B, cytochrome c oxidase subunit 7B, 1349

N. diseases: 104; N. variants: 3
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: rs397514583
rs397514583 		1.000 X 77905213 frameshift variant C/- delins
CUI: C3550921
Disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 		0.700 0
dbSNP: rs397514584
rs397514584 		1.000 X 77902641 splice acceptor variant A/G snv
CUI: C3550921
Disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 		0.700 0
dbSNP: rs397514585
rs397514585 		1.000 X 77902657 stop gained C/T snv
CUI: C3550921
Disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 		0.700 0