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: rs141416541
rs141416541
MCPH1
1 8 6494184 non coding transcript exon variant C/T snv 2.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs2922895
rs2922895
ANGPT2 ; MCPH1
1 8 6522411 intron variant G/C snv 0.41 0.700 1.000 1 2018 2018