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: rs121912799
rs121912799
CLCN1
3 0.882 0.120 7 143332490 missense variant T/G snv 3.7E-04 2.7E-04 0.800 1.000 27 1992 2016
dbSNP: rs146457619
rs146457619
CLCN1
3 0.882 0.120 7 143339304 missense variant A/G snv 4.0E-04 3.8E-04 0.800 1.000 27 1992 2016
dbSNP: rs150885084
rs150885084
CLCN1
2 0.925 0.120 7 143330772 missense variant G/A snv 5.6E-05 2.8E-05 0.800 1.000 26 1992 2016
dbSNP: rs746125212
rs746125212
CLCN1
2 0.925 0.120 7 143339295 missense variant G/A;C snv 1.2E-05 0.800 1.000 26 1992 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 26 1992 2016
dbSNP: rs121912801
rs121912801
CLCN1
2 0.925 0.120 7 143339527 missense variant G/T snv 1.6E-05 1.4E-05 0.800 1.000 23 1992 2016
dbSNP: rs80356696
rs80356696
CLCN1
4 0.851 0.120 7 143342001 missense variant A/G;T snv 0.800 1.000 22 1992 2016
dbSNP: rs121912805
rs121912805
CLCN1
1 1.000 0.120 7 143330789 missense variant G/A snv 4.0E-06 1.4E-05 0.800 1.000 21 1992 2016
dbSNP: rs121912807
rs121912807
CLCN1
1 1.000 0.120 7 143339534 missense variant G/A snv 4.0E-06 0.800 1.000 21 1992 2016
dbSNP: rs797045032
rs797045032
CLCN1
11 0.827 0.280 7 143321720 missense variant GG/TC mnv 0.800 1.000 9 2010 2016
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: rs149729531
rs149729531
CLCN1
6 0.851 0.200 7 143321432 missense variant C/G snv 1.2E-03 7.5E-04 0.800 1.000 6 1994 2016
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: rs774396430
rs774396430
CLCN1
2 0.925 0.120 7 143330897 missense variant G/A snv 1.2E-05 2.1E-05 0.800 1.000 5 1994 2013
dbSNP: rs748639603
rs748639603
CLCN1
2 0.925 0.120 7 143320771 missense variant T/G snv 8.0E-06 7.0E-06 0.800 1.000 2 2012 2015
dbSNP: rs1554439879
rs1554439879
CLCN1
1 1.000 0.120 7 143350623 missense variant G/A snv 0.700 1.000 21 1992 2016
dbSNP: rs1279658001
rs1279658001
CLCN1
1 1.000 0.120 7 143332487 missense variant A/C snv 1.4E-05 0.700 1.000 20 1992 2016
dbSNP: rs201509501
rs201509501
CLCN1
1 1.000 0.120 7 143320675 missense variant C/T snv 3.5E-04 1.3E-04 0.700 1.000 20 1992 2016
dbSNP: rs755433272
rs755433272
CLCN1
1 1.000 0.120 7 143350592 missense variant G/A;C snv 4.0E-06; 8.0E-06 0.700 1.000 20 1992 2016
dbSNP: rs757109632
rs757109632
CLCN1
3 0.882 0.120 7 143324468 missense variant T/C snv 2.1E-05 0.700 1.000 20 1992 2016
dbSNP: rs769312894
rs769312894
CLCN1
1 1.000 0.120 7 143319783 missense variant C/T snv 8.0E-06 7.0E-06 0.700 1.000 20 1992 2016
dbSNP: rs777685454
rs777685454
CLCN1
1 1.000 0.120 7 143341952 missense variant G/A;C snv 2.4E-05; 4.0E-06 0.700 1.000 20 1992 2016
dbSNP: rs80356697
rs80356697
CLCN1
3 0.882 0.120 7 143342013 missense variant T/A snv 1.6E-05 0.700 1.000 20 1992 2016
dbSNP: rs55960271
rs55960271
CLCN1
5 0.882 0.120 7 143351678 stop gained C/A;T snv 4.0E-06; 2.9E-03 0.700 1.000 18 1994 2016
dbSNP: rs780534566
rs780534566
CLCN1
2 0.925 0.120 7 143350577 frameshift variant CT/- del 0.700 1.000 10 1995 2016