Disease: MYASTHENIC SYNDROME, CONGENITAL, 16
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121908552
SCN4A ; LOC105371858
0.763 0.160 17 63964587 missense variant C/A;G;T snv 4.0E-06 14
rs80338962
SCN4A
0.742 0.240 17 63941508 missense variant T/C snv 13
rs80338957
SCN4A
0.776 0.160 17 63957427 missense variant G/A snv 11
rs121908547
SCN4A
0.790 0.160 17 63943825 missense variant G/A snv 4.0E-06 7
rs527236148
SCN4A
0.790 0.160 17 63971201 missense variant G/A snv 7.0E-06 7
rs886041805
SCN4A
0.790 0.160 17 63941506 missense variant C/A;T snv 7