CEP55, centrosomal protein 55, 55165

N. diseases: 134; N. variants: 4
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: rs141458677
rs141458677
1.000 0.160 10 93503185 stop gained C/T snv 2.8E-04 1.8E-04
Hydranencephaly with Renal Aplasia-Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1169095680
rs1169095680
1.000 0.160 10 93507039 frameshift variant -/A delins 4.0E-06 1.4E-05
Hydranencephaly with Renal Aplasia-Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs10748604
rs10748604
10 93514178 intron variant C/T snv 0.50
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs201430235
rs201430235
1.000 0.160 10 93528032 stop gained C/A snv 1.2E-05
Hydranencephaly with Renal Aplasia-Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 1 2017 2017