CPVL, carboxypeptidase vitellogenic like, 54504

N. diseases: 40; N. variants: 3
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: rs117744081
rs117744081 		0.851 0.080 7 29092663 missense variant A/G snv 2.2E-02 2.3E-02
CUI: C0206710
Disease: Basal Cell Neoplasm
Basal Cell Neoplasm 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs117744081
rs117744081 		0.851 0.080 7 29092663 missense variant A/G snv 2.2E-02 2.3E-02
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs117744081
rs117744081 		0.851 0.080 7 29092663 missense variant A/G snv 2.2E-02 2.3E-02
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs117744081
rs117744081 		0.851 0.080 7 29092663 missense variant A/G snv 2.2E-02 2.3E-02
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs245914
rs245914 		1.000 0.040 7 29178543 intron variant G/A;T snv
CUI: C0029516
Disease: Other and unspecified reactive psychosis
Other and unspecified reactive psychosis 		Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs245914
rs245914 		1.000 0.040 7 29178543 intron variant G/A;T snv
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs9639594
rs9639594 		1.000 0.080 7 29139570 intron variant G/A snv 0.20
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2018 2018