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: rs80338792
rs80338792
SCN4A
7 0.827 0.160 17 63943846 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.820 1.000 15 1994 2016
dbSNP: rs121908552
rs121908552
SCN4A ; LOC105371858
14 0.763 0.160 17 63964587 missense variant C/A;G;T snv 4.0E-06 0.810 0.933 15 1994 2016
dbSNP: rs121908559
rs121908559
SCN4A
2 0.925 0.120 17 63941854 missense variant C/T snv 4.0E-06 0.710 1.000 13 1994 2016
dbSNP: rs121908547
rs121908547
SCN4A
7 0.790 0.160 17 63943825 missense variant G/A snv 4.0E-06 0.710 1.000 1 1994 1994
dbSNP: rs121908549
rs121908549
SCN4A
2 0.925 0.120 17 63945602 missense variant T/C snv 0.700 1.000 13 1994 2016
dbSNP: rs121908560
rs121908560
SCN4A
2 1.000 0.120 17 63944694 missense variant G/T snv 0.700 1.000 13 1994 2016
dbSNP: rs121908561
rs121908561
SCN4A
2 0.925 0.120 17 63972197 missense variant T/C snv 0.700 1.000 13 1994 2016
dbSNP: rs372631097
rs372631097
SCN4A ; LOC105371858
1 1.000 0.120 17 63964566 stop gained C/A;T snv 8.8E-05 5.6E-05 0.700 1.000 13 1994 2016
dbSNP: rs749400108
rs749400108
SCN4A
1 1.000 0.120 17 63957395 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 13 1994 2016
dbSNP: rs764718003
rs764718003
SCN4A
1 1.000 0.120 17 63971192 missense variant G/A snv 3.4E-05 1.4E-05 0.700 1.000 13 1994 2016
dbSNP: rs80338958
rs80338958
SCN4A
9 0.790 0.200 17 63945614 missense variant C/A;T snv 1.6E-05; 5.6E-05 0.700 1.000 13 1994 2016
dbSNP: rs121908546
rs121908546
SCN4A
3 0.882 0.120 17 63951866 missense variant G/A;C snv 6.1E-06 0.700 0
dbSNP: rs121908548
rs121908548
SCN4A
4 0.851 0.160 17 63941517 missense variant C/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: 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: rs914586984
rs914586984
SCN4A ; LOC105371858
9 1.000 0.120 17 63959275 missense variant G/C;T snv 0.700 0