CENPE, centromere protein E, 1062

N. diseases: 78; N. variants: 5
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: rs2720460
rs2720460 		1.000 0.120 4 103133529 intron variant A/G snv 0.35
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.800 1.000 4 2013 2017
dbSNP: rs141488085
rs141488085 		1.000 4 103147427 missense variant T/C snv 3.3E-04 3.3E-04
CUI: C4015080
Disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE 		0.800 1.000 1 2014 2014
dbSNP: rs144716013
rs144716013 		1.000 4 103158691 missense variant C/A;T snv 4.4E-04; 1.3E-04
CUI: C4015080
Disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE 		0.800 1.000 1 2014 2014
dbSNP: rs13114629
rs13114629 		4 103111211 intron variant G/A snv 2.5E-02
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs2720460
rs2720460 		1.000 0.120 4 103133529 intron variant A/G snv 0.35
CUI: C0039590
Disease: Testicular Neoplasms
Testicular Neoplasms 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs111853599
rs111853599 		4 103196214 missense variant A/G snv 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs111853599
rs111853599 		4 103196214 missense variant A/G snv 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2013 2013