Gene: DEGS1 ×
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: rs768180196
rs768180196
DEGS1
1 1.000 0.120 1 224190258 missense variant A/G snv 5.7E-05 7.0E-06 0.700 1.000 1 2019 2019