Gene: CLCN6 ×
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: rs12744757
rs12744757
CLCN6 ; NPPA ; NPPA-AS1
1 1 11846764 intron variant C/T snv 4.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs17037452
rs17037452
CLCN6
3 1 11835618 intron variant A/G snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs202071545
rs202071545
CLCN6
2 1 11818105 intron variant AAAA/-;AAA;AAAAA;AAAAAA delins 0.700 1.000 1 2018 2018
dbSNP: rs202102042
rs202102042
CLCN6 ; NPPA ; NPPA-AS1
2 1.000 1 11847114 missense variant C/T snv 2.2E-04 1.6E-04 0.700 1.000 1 2019 2019
dbSNP: rs3753584
rs3753584
CLCN6 ; MTHFR
10 0.827 0.080 1 11804529 5 prime UTR variant T/C snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs5068
rs5068
CLCN6 ; NPPA ; NPPA-AS1
13 0.776 0.160 1 11845917 3 prime UTR variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs55857306
rs55857306
CLCN6
1 1 11835738 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs55892892
rs55892892
CLCN6
2 1 11836799 intron variant C/A snv 4.6E-02 0.700 1.000 1 2017 2017
dbSNP: rs6669371
rs6669371
CLCN6
3 1 11822085 intron variant T/G snv 0.14 0.700 1.000 1 2019 2019