PCID2, PCI domain containing 2, 55795

N. diseases: 5; 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: rs3024737
rs3024737 		13 113165471 intron variant A/G snv 1.3E-02
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		0.700 1.000 1 2017 2017
dbSNP: rs3024739
rs3024739 		13 113165634 intron variant G/A snv 0.17
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs34201467
rs34201467 		13 113176015 downstream gene variant T/C snv 0.13
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs35708060
rs35708060 		13 113205987 intron variant G/A snv 0.12
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs553316
rs553316 		13 113183701 intron variant A/C;G snv 0.71
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs61966459
rs61966459 		13 113198721 intron variant A/G snv 0.24
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs61966459
rs61966459 		13 113198721 intron variant A/G snv 0.24
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2016 2016
dbSNP: rs9549357
rs9549357 		13 113205807 intron variant G/A;C snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs17882561
rs17882561 		1.000 0.080 13 113165199 intron variant G/A snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3024735
rs3024735 		0.925 0.080 13 113165199 intron variant G/A snv 0.19
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3024735
rs3024735 		0.925 0.080 13 113165199 intron variant G/A snv 0.19
CUI: C0750151
Disease: Vaso-Occlusive Crisis
Vaso-Occlusive Crisis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3024772
rs3024772 		13 113171786 missense variant G/A;C snv 2.4E-02; 4.0E-06
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs494860
rs494860 		1.000 0.120 13 113164695 intron variant T/A snv 0.26 0.19
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018