Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397514583
rs397514583
COX7B
1 1.000 X 77905213 frameshift variant C/- delins 0.700 0
dbSNP: rs397514584
rs397514584
COX7B
1 1.000 X 77902641 splice acceptor variant A/G snv 0.700 0
dbSNP: rs397514585
rs397514585
COX7B
1 1.000 X 77902657 stop gained C/T snv 0.700 0