Gene: NGLY1 ×
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: rs1553666033
rs1553666033
OXSM ; NGLY1
2 1.000 3 25783352 frameshift variant C/- del 0.700 1.000 6 2001 2017