Gene: CLN6 ×
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: rs104894483
rs104894483
CLN6
3 0.925 0.120 15 68214373 stop gained C/A;G;T snv 6.8E-05; 2.6E-03; 2.0E-05; 4.0E-06 0.700 1.000 1 2002 2002
dbSNP: rs756522171
rs756522171
CLN6
2 1.000 0.120 15 68211674 splice donor variant C/T snv 1.2E-05 0.700 1.000 1 2003 2003