CSNK2A1, casein kinase 2 alpha 1, 1457

N. diseases: 87; N. variants: 11
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: rs869312840
rs869312840 		1.000 20 492282 missense variant T/C snv 4.0E-06
CUI: C4310739
Disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME 		0.800 1.000 1 2016 2016
dbSNP: rs869312845
rs869312845 		0.925 20 505191 missense variant C/T snv
CUI: C4310739
Disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME 		0.800 1.000 1 2016 2016
dbSNP: rs869312848
rs869312848 		1.000 20 492351 missense variant T/C snv
CUI: C4310739
Disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME 		0.800 1.000 1 2016 2016
dbSNP: rs869312849
rs869312849 		1.000 20 505182 missense variant T/C;G snv
CUI: C4310739
Disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME 		0.800 1.000 1 2016 2016
dbSNP: rs869312845
rs869312845 		0.925 20 505191 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 6 2008 2018
dbSNP: rs6037828
rs6037828 		20 508365 non coding transcript exon variant C/A;T snv
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.700 1.000 1 2008 2008
dbSNP: rs74448913
rs74448913 		20 527787 intron variant T/A snv 3.6E-02
CUI: C4505222
Disease: Sleep Onset Latency
Sleep Onset Latency 		0.700 1.000 1 2016 2016
dbSNP: rs1057518092
rs1057518092 		1.000 20 499909 missense variant C/T snv
CUI: C4310739
Disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME 		0.700 0
dbSNP: rs1555764992
rs1555764992 		1.000 20 505178 missense variant A/T snv
CUI: C4310739
Disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME 		0.700 0
dbSNP: rs1568512728
rs1568512728 		1.000 20 495763 missense variant C/G snv
CUI: C4310739
Disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME 		0.700 0
dbSNP: rs1568532361
rs1568532361 		1.000 20 508551 start lost T/C snv
CUI: C4310739
Disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME 		0.700 0
dbSNP: rs869312846
rs869312846 		1.000 20 488676 splice donor variant A/G snv
CUI: C4310739
Disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME 		0.700 0