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: 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: rs17837965
rs17837965 		1.000 0.040 1 22068132 intron variant A/G snv 5.3E-02
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome 		Digestive System Diseases 0.010 1.000 1 2014 2014
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: 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: 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: 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: 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: rs864309721
rs864309721 		1.000 1 22086451 missense variant A/G snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2019 2019