WDR62, WD repeat domain 62, 284403

N. diseases: 83; N. variants: 31
Disease: Microcephaly ×
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: rs201053854
rs201053854 		0.925 0.200 19 36058791 missense variant G/T snv 6.6E-04 1.6E-04
CUI: C0025958
Disease: Microcephaly
Microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs387907082
rs387907082 		0.925 0.120 19 36081512 missense variant G/A snv 1.4E-05
CUI: C0025958
Disease: Microcephaly
Microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2020 2020
dbSNP: rs387907084
rs387907084 		0.925 0.120 19 36058795 missense variant G/A snv
CUI: C0025958
Disease: Microcephaly
Microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2020 2020
dbSNP: rs774912957
rs774912957 		0.925 0.200 19 36054999 missense variant G/C;T snv 7.3E-05
CUI: C0025958
Disease: Microcephaly
Microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016