Source: CURATED ×
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: 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 4 1995 2008
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 0 2002 2002
dbSNP: rs80356694
rs80356694
CLCN1
2 0.925 0.120 7 143339290 missense variant C/T snv 4.0E-06 0.710 1.000 0 1994 1994
dbSNP: rs80356697
rs80356697
CLCN1
3 0.882 0.120 7 143342013 missense variant T/A snv 1.6E-05 0.710 1.000 0 2010 2010
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 7 1995 2014
dbSNP: rs768119034
rs768119034
CLCN1
3 0.882 0.120 7 143339287 frameshift variant ACCCTGCGGAGGCT/- delins 5.6E-05 9.8E-05 0.700 1.000 7 1995 2013
dbSNP: rs80356701
rs80356701
CLCN1
3 0.882 0.120 7 143330838 missense variant T/C snv 6.0E-05 3.5E-05 0.700 1.000 7 1998 2013
dbSNP: rs762754992
rs762754992
CLCN1
3 0.882 0.120 7 143341995 missense variant C/T snv 1.6E-05 0.700 1.000 3 2000 2005
dbSNP: rs774843953
rs774843953
CLCN1
1 0.925 0.120 7 143332755 missense variant T/C snv 8.0E-06 0.700 1.000 3 1997 2005
dbSNP: rs776073429
rs776073429
CLCN1
2 0.925 0.120 7 143323387 splice donor variant G/A snv 1.6E-05 2.1E-05 0.700 1.000 3 2011 2016
dbSNP: rs121908552
rs121908552
SCN4A ; LOC105371858
13 0.763 0.160 17 63964587 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs80356684
rs80356684
CLCN1
1 1.000 0.120 7 143320756 missense variant A/T snv 0.700 0
dbSNP: rs80356685
rs80356685
CLCN1
1 1.000 0.120 7 143321744 missense variant C/G snv 3.6E-05 7.0E-06 0.700 0
dbSNP: rs80356686
rs80356686
CLCN1
2 0.925 0.120 7 143321729 missense variant G/A snv 2.8E-05 1.4E-05 0.700 0
dbSNP: rs80356688
rs80356688
CLCN1
1 1.000 0.120 7 143324486 missense variant C/T snv 0.700 0
dbSNP: rs80356690
rs80356690
CLCN1
4 0.882 0.120 7 143330788 missense variant C/G;T snv 1.2E-05 0.700 0
dbSNP: rs80356691
rs80356691
CLCN1
1 1.000 0.120 7 143330847 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs80356692
rs80356692
CLCN1
3 0.882 0.120 7 143330855 missense variant G/A snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs80356693
rs80356693
CLCN1
1 1.000 0.120 7 143339263 missense variant C/T snv 0.700 0
dbSNP: rs80356695
rs80356695
CLCN1
1 0.925 0.120 7 143339289 missense variant C/A snv 0.700 0
dbSNP: rs80356696
rs80356696
CLCN1
4 0.851 0.120 7 143342001 missense variant A/G;T snv 0.700 0
dbSNP: rs80356698
rs80356698
CLCN1
1 1.000 0.120 7 143350571 frameshift variant -/CTCA ins 0.700 0
dbSNP: rs80356699
rs80356699
CLCN1
2 0.925 0.120 7 143320744 missense variant A/G snv 0.700 0
dbSNP: rs80356700
rs80356700
CLCN1
3 0.882 0.120 7 143321841 missense variant G/A;T snv 1.2E-05; 8.0E-06 0.700 0
dbSNP: rs80356702
rs80356702
CLCN1
9 0.882 0.120 7 143330868 missense variant G/A snv 4.0E-06 1.4E-05 0.700 0