Disease: NOONAN SYNDROME 3
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 39
rs397507549
PTPN11
0.742 0.240 12 112489104 missense variant C/A;G snv 13
rs121918470
PTPN11
0.790 0.160 12 112489105 missense variant A/C;G snv 4.0E-06 10
rs121918468
PTPN11
0.882 0.160 12 112488444 missense variant G/A;T snv 3