CEP57, centrosomal protein 57, 9702

N. diseases: 89; N. variants: 9
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: rs644799
rs644799 		11 95831095 stop gained A/C;G;T snv 0.30 0.28
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 2 2017 2019
dbSNP: rs1255223
rs1255223 		11 95811227 intron variant A/G snv 0.28
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs2508713
rs2508713 		11 95814763 intron variant T/A snv 0.28
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs3017756
rs3017756 		11 95804194 intron variant G/A snv 0.35
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs3017756
rs3017756 		11 95804194 intron variant G/A snv 0.35
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs502521
rs502521 		11 95800393 intron variant T/A snv 0.28
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs1166323407
rs1166323407 		0.925 0.040 11 95827811 frameshift variant -/CAATGTTCAGC delins 6.0E-05 2.1E-05
CUI: C1850343
Disease: Mosaic variegated aneuploidy syndrome 1
Mosaic variegated aneuploidy syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1166323407
rs1166323407 		0.925 0.040 11 95827811 frameshift variant -/CAATGTTCAGC delins 6.0E-05 2.1E-05
CUI: C3279843
Disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 		0.700 0
dbSNP: rs1555052278
rs1555052278 		1.000 0.040 11 95821895 frameshift variant A/- del
CUI: C1850343
Disease: Mosaic variegated aneuploidy syndrome 1
Mosaic variegated aneuploidy syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1565326373
rs1565326373 		1.000 11 95817799 frameshift variant GA/- delins
CUI: C3279843
Disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 		0.700 0
dbSNP: rs387906977
rs387906977 		1.000 11 95812970 stop gained C/A;T snv 4.0E-06; 4.0E-06
CUI: C3279843
Disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 		0.700 0