Disease: Short neck
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 43
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 39
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv 34
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv 27
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv 18
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs730881014
RIT1
0.776 0.360 1 155904494 stop gained A/C;G;T snv 15
rs121913528
KRAS
0.851 0.160 12 25227349 missense variant C/A;T snv 12
rs760929207
OBSL1
0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06 12
rs1561873941
CUL7
0.925 0.200 6 43040335 frameshift variant T/- del 10
rs1561881909
CUL7 ; KLC4
0.925 0.200 6 43044835 frameshift variant G/- delins 9