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: rs386834069
rs386834069
COX6C ; VPS13B
1 1.000 0.320 8 99875502 frameshift variant CCAGCTGTTC/- delins 0.700 1.000 2 2004 2009