CDC42, cell division cycle 42, 998

N. diseases: 327; N. variants: 16
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: rs864309721
rs864309721 		1.000 1 22086451 missense variant A/G snv
CUI: C4225222
Disease: TAKENOUCHI-KOSAKI SYNDROME
TAKENOUCHI-KOSAKI SYNDROME 		0.820 1.000 4 2015 2019
dbSNP: rs10917151
rs10917151 		0.925 0.040 1 22096228 3 prime UTR variant G/A snv 0.14
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.800 1.000 1 2013 2013
dbSNP: rs2501276
rs2501276 		1 22047131 intron variant C/T snv 8.1E-02
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement 		0.800 1.000 1 2012 2012
dbSNP: rs797044870
rs797044870 		0.925 1 22086456 missense variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 30 1993 2015
dbSNP: rs797044870
rs797044870 		0.925 1 22086456 missense variant A/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 30 1993 2015
dbSNP: rs797044916
rs797044916 		1.000 1 22078546 missense variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 30 1993 2015
dbSNP: rs10917151
rs10917151 		0.925 0.040 1 22096228 3 prime UTR variant G/A snv 0.14
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		Neoplasms 0.700 1.000 2 2018 2019
dbSNP: rs10917151
rs10917151 		0.925 0.040 1 22096228 3 prime UTR variant G/A snv 0.14
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma 		0.700 1.000 2 2018 2019
dbSNP: rs10917123
rs10917123 		1 22029485 intron variant G/A snv 0.21
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs10917152
rs10917152 		1 22099149 3 prime UTR variant C/T snv 0.11
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs2473290
rs2473290 		1 22031964 intron variant T/C snv 0.80
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1064795845
rs1064795845 		1.000 1 22078540 missense variant T/C snv
CUI: C4225222
Disease: TAKENOUCHI-KOSAKI SYNDROME
TAKENOUCHI-KOSAKI SYNDROME 		0.700 0
dbSNP: rs1553196096
rs1553196096 		1 22086463 missense variant G/A snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1553196096
rs1553196096 		1 22086463 missense variant G/A snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1553196096
rs1553196096 		1 22086463 missense variant G/A snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1553196096
rs1553196096 		1 22086463 missense variant G/A snv
CUI: C4021866
Disease: obsolete Abnormal heart morphology
obsolete Abnormal heart morphology 		0.700 0
dbSNP: rs1553196096
rs1553196096 		1 22086463 missense variant G/A snv
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation 		0.700 0
dbSNP: rs1553196100
rs1553196100 		1.000 1 22086502 missense variant G/T snv
CUI: C4225222
Disease: TAKENOUCHI-KOSAKI SYNDROME
TAKENOUCHI-KOSAKI SYNDROME 		0.700 0
dbSNP: rs1553196101
rs1553196101 		0.925 0.080 1 22086507 missense variant T/C snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1553196101
rs1553196101 		0.925 0.080 1 22086507 missense variant T/C snv
CUI: C4225222
Disease: TAKENOUCHI-KOSAKI SYNDROME
TAKENOUCHI-KOSAKI SYNDROME 		0.700 0
dbSNP: rs1553196101
rs1553196101 		0.925 0.080 1 22086507 missense variant T/C snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1553196101
rs1553196101 		0.925 0.080 1 22086507 missense variant T/C snv
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		Infections; Respiratory Tract Diseases 0.700 0
dbSNP: rs1553196101
rs1553196101 		0.925 0.080 1 22086507 missense variant T/C snv
CUI: C0038379
Disease: Strabismus
Strabismus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1553196101
rs1553196101 		0.925 0.080 1 22086507 missense variant T/C snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1553196101
rs1553196101 		0.925 0.080 1 22086507 missense variant T/C snv
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation 		0.700 0