Disease: Multiple congenital anomalies
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 35
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 34
rs80338903
USH2A
0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 25
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv 18
rs28933386
PTPN11
0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 14
rs267607048
SHOC2
0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 12