Disease: Dysautonomia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28933979
TTR
0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 70
rs63750756
MAPT
0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 23
rs104893856
PHOX2B
0.827 0.080 4 41746162 missense variant C/T snv 6
rs758440592
AAAS
0.882 0.120 12 53314832 missense variant C/T snv 2.0E-05 7.0E-06 4
rs121909717
GFAP
0.925 0.120 17 44908075 missense variant G/A;C;T snv 1.2E-04 3
rs73969684
SCN1A-AS1 ; SCN9A
1.000 0.040 2 166305834 missense variant C/G;T snv 1.2E-05; 2.8E-03 2