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: rs80356694
rs80356694
CLCN1
2 0.925 0.120 7 143339290 missense variant C/T snv 4.0E-06 0.820 1.000 14 1993 2016
dbSNP: rs80356690
rs80356690
CLCN1
4 0.882 0.120 7 143330788 missense variant C/G;T snv 1.2E-05 0.800 1.000 18 1993 2016
dbSNP: rs80356692
rs80356692
CLCN1
3 0.882 0.120 7 143330855 missense variant G/A snv 4.0E-06 1.4E-05 0.800 1.000 18 1993 2016
dbSNP: rs80356696
rs80356696
CLCN1
4 0.851 0.120 7 143342001 missense variant A/G;T snv 0.800 1.000 13 1993 2016
dbSNP: rs80356699
rs80356699
CLCN1
2 0.925 0.120 7 143320744 missense variant A/G snv 0.800 1.000 13 1993 2016
dbSNP: rs80356701
rs80356701
CLCN1
3 0.882 0.120 7 143330838 missense variant T/C snv 6.0E-05 3.5E-05 0.800 1.000 7 1998 2013
dbSNP: rs80356703
rs80356703
CLCN1
3 0.882 0.120 7 143331265 missense variant G/A;T snv 2.8E-05 0.800 1.000 7 1994 2017
dbSNP: rs80356700
rs80356700
CLCN1
3 0.882 0.120 7 143321841 missense variant G/A;T snv 1.2E-05; 8.0E-06 0.800 1.000 6 1993 2010
dbSNP: rs80356702
rs80356702
CLCN1
9 0.882 0.120 7 143330868 missense variant G/A snv 4.0E-06 1.4E-05 0.800 1.000 4 1995 2015
dbSNP: rs55960271
rs55960271
CLCN1
5 0.882 0.120 7 143351678 stop gained C/A;T snv 4.0E-06; 2.9E-03 0.710 1.000 20 1994 2016
dbSNP: rs80356697
rs80356697
CLCN1
3 0.882 0.120 7 143342013 missense variant T/A snv 1.6E-05 0.710 1.000 13 1993 2016
dbSNP: rs797045032
rs797045032
CLCN1
11 0.827 0.280 7 143321720 missense variant GG/TC mnv 0.710 1.000 8 2010 2015
dbSNP: rs768119034
rs768119034
CLCN1
3 0.882 0.120 7 143339287 frameshift variant ACCCTGCGGAGGCT/- delins 5.6E-05 9.8E-05 0.710 1.000 6 1994 2016
dbSNP: rs764100025
rs764100025
CLCN1
3 0.882 0.120 7 143330810 missense variant G/A snv 1.6E-05 0.710 1.000 4 2011 2017
dbSNP: rs80356687
rs80356687
CLCN1
3 0.882 0.120 7 143324442 missense variant C/T snv 1.2E-05 2.1E-05 0.710 1.000 1 2002 2002
dbSNP: rs80356689
rs80356689
CLCN1
1 1.000 0.120 7 143330775 missense variant T/C snv 0.700 1.000 13 1993 2016
dbSNP: rs80356686
rs80356686
CLCN1
2 0.925 0.120 7 143321729 missense variant G/A snv 2.8E-05 1.4E-05 0.700 1.000 12 1993 2016
dbSNP: rs780534566
rs780534566
CLCN1
2 0.925 0.120 7 143350577 frameshift variant CT/- del 0.700 1.000 10 1995 2016
dbSNP: rs121912799
rs121912799
CLCN1
3 0.882 0.120 7 143332490 missense variant T/G snv 3.7E-04 2.7E-04 0.700 1.000 8 1992 2013
dbSNP: rs146457619
rs146457619
CLCN1
3 0.882 0.120 7 143339304 missense variant A/G snv 4.0E-04 3.8E-04 0.700 1.000 8 1995 2014
dbSNP: rs746125212
rs746125212
CLCN1
2 0.925 0.120 7 143339295 missense variant G/A;C snv 1.2E-05 0.700 1.000 8 1995 2015
dbSNP: rs80356704
rs80356704
CLCN1
6 0.827 0.200 7 143341938 missense variant C/T snv 4.4E-05 2.1E-05 0.700 1.000 7 1999 2016
dbSNP: rs149729531
rs149729531
CLCN1
6 0.851 0.200 7 143321432 missense variant C/G snv 1.2E-03 7.5E-04 0.700 1.000 6 1994 2016
dbSNP: rs150885084
rs150885084
CLCN1
2 0.925 0.120 7 143330772 missense variant G/A snv 5.6E-05 2.8E-05 0.700 1.000 6 1998 2014
dbSNP: rs202217420
rs202217420
CLCN1
2 0.925 0.120 7 143316395 splice region variant A/G;T snv 3.0E-04 0.700 1.000 6 1997 2014