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: rs139003032
rs139003032
CLN8
1 1.000 0.120 8 1780512 missense variant A/G;T snv 2.0E-05; 3.3E-04 0.800 1.000 7 2004 2016