Gene: ALS2 ×
Source: CLINVAR ×
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: rs767350733
rs767350733
ALS2
7 0.882 0.120 2 201724392 stop gained G/A snv 2.0E-05 0.700 1.000 7 1992 2017