CDK2, cyclin dependent kinase 2, 1017

N. diseases: 270; N. variants: 4
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: rs2069408
rs2069408 		0.925 0.200 12 55970537 intron variant A/G snv 0.24
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.800 1.000 1 2011 2011
dbSNP: rs2069408
rs2069408 		0.925 0.200 12 55970537 intron variant A/G snv 0.24
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs3213122
rs3213122 		12 55969882 non coding transcript exon variant C/A snv 8.9E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1045435
rs1045435 		1.000 0.120 12 55972376 3 prime UTR variant G/C snv 0.15
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1399364791
rs1399364791 		0.882 0.240 12 55967046 missense variant G/A snv 4.0E-06
CUI: C1335302
Disease: Pancreatic Ductal Adenocarcinoma
Pancreatic Ductal Adenocarcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1399364791
rs1399364791 		0.882 0.240 12 55967046 missense variant G/A snv 4.0E-06
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1399364791
rs1399364791 		0.882 0.240 12 55967046 missense variant G/A snv 4.0E-06
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2014 2014