CDC45, cell division cycle 45, 8318

N. diseases: 102; N. variants: 14
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: rs146559223
rs146559223 		1.000 22 19507454 missense variant C/A;T snv 4.0E-06
CUI: C4310738
Disease: MEIER-GORLIN SYNDROME 7
MEIER-GORLIN SYNDROME 7 		0.800 1.000 1 2016 2016
dbSNP: rs540217942
rs540217942 		1.000 22 19483988 missense variant C/T snv 6.5E-05 9.8E-05
CUI: C4310738
Disease: MEIER-GORLIN SYNDROME 7
MEIER-GORLIN SYNDROME 7 		0.800 1.000 1 2016 2016
dbSNP: rs754080445
rs754080445 		1.000 22 19499124 missense variant A/G snv 2.0E-05
CUI: C4310738
Disease: MEIER-GORLIN SYNDROME 7
MEIER-GORLIN SYNDROME 7 		0.800 1.000 1 2016 2016
dbSNP: rs879255632
rs879255632 		1.000 22 19482711 missense variant A/C snv
CUI: C4310738
Disease: MEIER-GORLIN SYNDROME 7
MEIER-GORLIN SYNDROME 7 		0.800 1.000 1 2016 2016
dbSNP: rs879255633
rs879255633 		1.000 22 19481044 missense variant A/G snv
CUI: C4310738
Disease: MEIER-GORLIN SYNDROME 7
MEIER-GORLIN SYNDROME 7 		0.800 1.000 1 2016 2016
dbSNP: rs13447287
rs13447287 		1.000 0.040 22 19518601 intron variant T/C snv 6.9E-03
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.700 1.000 1 2015 2015
dbSNP: rs151279621
rs151279621 		1.000 22 19505448 missense variant C/A;G snv 4.0E-06
CUI: C4310738
Disease: MEIER-GORLIN SYNDROME 7
MEIER-GORLIN SYNDROME 7 		0.700 1.000 1 2016 2016
dbSNP: rs778665661
rs778665661 		1.000 22 19518867 missense variant C/T snv 5.6E-05 5.6E-05
CUI: C4310738
Disease: MEIER-GORLIN SYNDROME 7
MEIER-GORLIN SYNDROME 7 		0.700 1.000 1 2016 2016
dbSNP: rs1376596361
rs1376596361 		1.000 22 19516573 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C4310738
Disease: MEIER-GORLIN SYNDROME 7
MEIER-GORLIN SYNDROME 7 		0.700 0
dbSNP: rs745800041
rs745800041 		1.000 22 19482803 synonymous variant C/T snv 1.6E-05 7.0E-06
CUI: C4310738
Disease: MEIER-GORLIN SYNDROME 7
MEIER-GORLIN SYNDROME 7 		0.700 0
dbSNP: rs748749078
rs748749078 		1.000 22 19482818 synonymous variant C/T snv 4.0E-06
CUI: C4310738
Disease: MEIER-GORLIN SYNDROME 7
MEIER-GORLIN SYNDROME 7 		0.700 0
dbSNP: rs751663397
rs751663397 		1.000 22 19514996 missense variant C/T snv 2.0E-05 5.6E-05
CUI: C4310738
Disease: MEIER-GORLIN SYNDROME 7
MEIER-GORLIN SYNDROME 7 		0.700 0
dbSNP: rs9606030
rs9606030 		1.000 22 19483983 missense variant A/G snv 1.5E-03 1.3E-03
CUI: C4310738
Disease: MEIER-GORLIN SYNDROME 7
MEIER-GORLIN SYNDROME 7 		0.700 0
dbSNP: rs1548359
rs1548359 		1.000 0.040 22 19515751 intron variant G/C snv 0.84
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 < 0.001 1 2004 2004