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: rs28930069
rs28930069
CACNA1S
5 0.882 0.200 1 201053539 missense variant G/A;C snv 0.820 1.000 8 1994 2010
dbSNP: rs80338777
rs80338777
CACNA1S
10 0.827 0.200 1 201077915 missense variant C/A;T snv 1.2E-05 0.810 1.000 16 1994 2012
dbSNP: rs28930068
rs28930068
CACNA1S
3 0.925 0.160 1 201053538 missense variant C/T snv 4.0E-06 0.800 1.000 14 1994 2018
dbSNP: rs80338778
rs80338778
CACNA1S
2 0.925 0.160 1 201077916 missense variant G/A;C snv 8.0E-06 0.710 1.000 7 1994 2010
dbSNP: rs121908552
rs121908552
SCN4A ; LOC105371858
14 0.763 0.160 17 63964587 missense variant C/A;G;T snv 4.0E-06 0.710 1.000 1 2015 2015
dbSNP: rs797045031
rs797045031
CACNA1S
1 1.000 1 201058493 splice acceptor variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs121908547
rs121908547
SCN4A
7 0.790 0.160 17 63943825 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs1553252746
rs1553252746
CACNA1S
2 1.000 1 201091770 frameshift variant G/- delins 0.700 0
dbSNP: rs1558056376
rs1558056376
CACNA1S
2 1.000 1 201050983 splice donor variant C/G;T snv 0.700 0
dbSNP: rs1558071742
rs1558071742
CACNA1S
2 1.000 1 201076951 frameshift variant T/- delins 0.700 0
dbSNP: rs201998231
rs201998231
CACNA1S
2 1.000 1 201092011 stop gained G/A snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs2297902
rs2297902
CACNA1S
2 0.925 0.160 1 201065943 missense variant G/A;C snv 3.8E-02 0.700 0
dbSNP: rs267606698
rs267606698
CACNA1S
2 0.925 0.160 1 201066917 missense variant A/T snv 0.700 0
dbSNP: rs527236148
rs527236148
SCN4A
7 0.790 0.160 17 63971201 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs550371466
rs550371466
CACNA1S ; LOC101929305
2 1.000 1 201041534 stop gained G/A;T snv 9.2E-05; 4.0E-06 0.700 0
dbSNP: rs762294904
rs762294904
CACNA1S
2 1.000 1 201077995 stop gained G/A;T snv 8.0E-06 0.700 0
dbSNP: rs80338779
rs80338779
CACNA1S
3 0.925 0.160 1 201066283 missense variant C/A snv 0.700 0
dbSNP: rs80338957
rs80338957
SCN4A
11 0.776 0.160 17 63957427 missense variant G/A snv 0.700 0
dbSNP: rs80338962
rs80338962
SCN4A
13 0.742 0.240 17 63941508 missense variant T/C snv 0.700 0
dbSNP: rs886041805
rs886041805
SCN4A
7 0.790 0.160 17 63941506 missense variant C/A;T snv 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: 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: rs990388342
rs990388342
CACNA1S
3 0.882 0.160 1 201083222 missense variant T/C snv 0.010 1.000 1 2015 2015