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: rs80338777
rs80338777
CACNA1S
10 0.827 0.200 1 201077915 missense variant C/A;T snv 1.2E-05 0.750 1.000 5 1996 2014
dbSNP: rs80338778
rs80338778
CACNA1S
2 0.925 0.160 1 201077916 missense variant G/A;C snv 8.0E-06 0.740 1.000 4 2005 2015
dbSNP: rs28930068
rs28930068
CACNA1S
3 0.925 0.160 1 201053538 missense variant C/T snv 4.0E-06 0.720 1.000 2 1995 2007
dbSNP: rs28930069
rs28930069
CACNA1S
5 0.882 0.200 1 201053539 missense variant G/A;C snv 0.720 1.000 2 2005 2007
dbSNP: rs80338788
rs80338788
SCN4A ; LOC105371858
4 0.851 0.160 17 63959269 missense variant C/A;T snv 4.0E-06; 1.2E-05 0.720 1.000 2 2002 2004
dbSNP: rs80338784
rs80338784
SCN4A ; LOC105371858
4 0.851 0.160 17 63959278 missense variant C/T snv 8.0E-06 0.710 1.000 1 2014 2014
dbSNP: rs80338785
rs80338785
SCN4A ; LOC105371858
4 0.851 0.160 17 63959270 missense variant G/A;C;T snv 0.710 1.000 1 2002 2002
dbSNP: rs80338779
rs80338779
CACNA1S
3 0.925 0.160 1 201066283 missense variant C/A snv 0.700 0
dbSNP: rs80338789
rs80338789
SCN4A
4 0.851 0.160 17 63947091 missense variant C/T snv 1.4E-05 0.700 0
dbSNP: rs104894824
rs104894824
GJB1
4 0.882 0.160 X 71223871 missense variant C/T snv 0.010 1.000 1 2001 2001
dbSNP: rs121908552
rs121908552
SCN4A ; LOC105371858
14 0.763 0.160 17 63964587 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs121908555
rs121908555
SCN4A
2 0.925 0.160 17 63945608 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
23 0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs1311839715
rs1311839715
KCNJ18
3 0.882 0.200 17 21703291 missense variant G/C snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs147213895
rs147213895
RYR1
3 0.882 0.200 19 38499241 missense variant A/G snv 1.0E-03 1.0E-03 0.010 1.000 1 2004 2004
dbSNP: rs17215437
rs17215437
KCNE3
4 0.851 0.200 11 74457316 missense variant C/T snv 3.0E-03 3.8E-03 0.010 1.000 1 2002 2002
dbSNP: rs2297902
rs2297902
CACNA1S
2 0.925 0.160 1 201065943 missense variant G/A;C snv 3.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs267606698
rs267606698
CACNA1S
2 0.925 0.160 1 201066917 missense variant A/T snv 0.010 1.000 1 2009 2009
dbSNP: rs990388342
rs990388342
CACNA1S
3 0.882 0.160 1 201083222 missense variant T/C snv 0.010 1.000 1 2015 2015