Gene: NPPA ×
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: rs5063
rs5063
CLCN6 ; NPPA ; NPPA-AS1
12 0.763 0.280 1 11847591 missense variant C/T snv 5.6E-02 5.3E-02 0.030 1.000 3 2010 2015
dbSNP: rs5065
rs5065
CLCN6 ; NPPA ; NPPA-AS1
12 0.763 0.240 1 11846011 stop lost A/G snv 0.14 0.21 0.010 1.000 1 2010 2010
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 0.010 1.000 1 2016 2016
dbSNP: rs762638785
rs762638785
CLCN6 ; NPPA ; NPPA-AS1
1 1.000 0.080 1 11847150 missense variant A/G snv 4.0E-05 0.010 1.000 1 2019 2019