Gene: RHEB ×
Source: CLINVAR ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519949
rs1057519949
RHEB
4 0.851 0.120 7 151490964 missense variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519950
rs1057519950
RHEB
4 0.827 0.200 7 151490963 missense variant T/A;C snv 0.700 1.000 1 2016 2016