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: rs121908544
rs121908544
SCN4A
3 0.882 0.160 17 63941940 missense variant G/A;T snv 0.850 1.000 22 1992 2010
dbSNP: rs80338957
rs80338957
SCN4A
11 0.776 0.160 17 63957427 missense variant G/A snv 0.840 1.000 20 1992 2019
dbSNP: rs121908547
rs121908547
SCN4A
7 0.790 0.160 17 63943825 missense variant G/A snv 4.0E-06 0.820 1.000 19 1992 2011
dbSNP: rs121908545
rs121908545
SCN4A
5 0.851 0.160 17 63941939 missense variant C/A;G;T snv 0.820 1.000 18 1992 2019
dbSNP: rs121908548
rs121908548
SCN4A
4 0.851 0.160 17 63941517 missense variant C/T snv 0.810 1.000 18 1992 2010
dbSNP: rs80338792
rs80338792
SCN4A
7 0.827 0.160 17 63943846 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.810 1.000 18 1992 2010
dbSNP: rs121908554
rs121908554
SCN4A
1 1.000 0.080 17 63941915 missense variant C/T snv 0.810 1.000 17 1992 2010
dbSNP: rs121908551
rs121908551
SCN4A
3 0.882 0.160 17 63944708 missense variant C/T snv 7.0E-06 0.810 1.000 16 1992 2009
dbSNP: rs121908550
rs121908550
SCN4A
2 0.925 0.160 17 63941984 missense variant A/C snv 0.800 1.000 17 1992 2010
dbSNP: rs80338956
rs80338956
SCN4A ; LOC105371858
3 0.882 0.160 17 63957460 missense variant A/G snv 0.800 1.000 17 1992 2010
dbSNP: rs80338962
rs80338962
SCN4A
13 0.742 0.240 17 63941508 missense variant T/C snv 0.720 1.000 2 1997 2011
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: rs121908546
rs121908546
SCN4A
3 0.882 0.120 17 63951866 missense variant G/A;C snv 6.1E-06 0.700 1.000 16 1992 2009
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 16 1992 2009
dbSNP: rs1064794243
rs1064794243
SCN4A
5 0.851 0.200 17 63941169 missense variant A/T snv 0.700 0
dbSNP: rs121908559
rs121908559
SCN4A
2 0.925 0.120 17 63941854 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs121908561
rs121908561
SCN4A
2 0.925 0.120 17 63972197 missense variant T/C 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: rs886041805
rs886041805
SCN4A
7 0.790 0.160 17 63941506 missense variant C/A;T snv 0.700 0
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2017 2017
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2017 2017
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: rs774843953
rs774843953
CLCN1
2 0.925 0.120 7 143332755 missense variant T/C snv 8.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs775539496
rs775539496
DYSF
1 1.000 0.080 2 71556014 missense variant C/T snv 1.0E-04 7.7E-05 0.010 1.000 1 2009 2009
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2017 2017