Gene: MCPH1 ×
Source: ALL
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: rs199422124
rs199422124
MCPH1
2 0.925 0.120 8 6409336 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs766476013
rs766476013
MCPH1
1 1.000 0.120 8 6409342 missense variant C/G snv 1.6E-05 7.0E-06 0.010 1.000 1 2019 2019