MCPH1, microcephalin 1, 79648

N. diseases: 141; N. variants: 44
Disease: Tonometry ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs76020419
rs76020419 		8 6502768 3 prime UTR variant G/T snv 2.7E-02
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 3 2018 2018