Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519917
MTOR
0.807 0.160 1 11124517 missense variant A/G;T snv 7
rs1057519949
RHEB
0.851 0.120 7 151490964 missense variant A/T snv 4
rs1057519950
RHEB
0.827 0.200 7 151490963 missense variant T/A;C snv 4
rs1057519786
ARAF
0.882 0.160 X 47566722 missense variant C/G;T snv 3
rs1057519876
ARAF
0.882 0.160 X 47566721 missense variant T/G snv 3