Disease: Bilateral ptosis
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 44
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs1562846694
ACTL6B ; TFR2
0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 32
rs727503109
KRAS
0.752 0.320 12 25245277 missense variant T/C snv 16
rs753611141
PMPCA
0.827 0.280 9 136418847 missense variant G/A;T snv 2.4E-05; 4.0E-06 14
rs768643552
PMPCA
0.851 0.240 9 136418630 missense variant G/A;C snv 4.0E-06 13