MCPH1, microcephalin 1, 79648

N. diseases: 141; N. variants: 44
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: rs11137037
rs11137037
0.851 0.200 8 6538661 intron variant A/C snv 0.40
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs12674822
rs12674822
0.851 0.200 8 6531695 intron variant T/G snv 0.49
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019