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: rs587776851
rs587776851
CLCN6 ; NPPA ; NPPA-AS1
1 1.000 0.080 1 11846008 stop lost TT/- del 0.700 0
dbSNP: rs61757261
rs61757261
CLCN6 ; NPPA ; NPPA-AS1
2 0.925 0.080 1 11847373 missense variant T/G snv 2.0E-03 1.6E-03 0.700 0