Gene: ECHS1 ×
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: rs777218310
rs777218310
ECHS1
4 0.925 10 133369907 frameshift variant TA/- delins 1.6E-05 1.3E-04 0.700 1.000 14 2014 2018