XPNPEP3, X-prolyl aminopeptidase 3, 63929

N. diseases: 20; 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: rs267607179
rs267607179 		1.000 22 40924482 missense variant G/A;T snv 2.0E-05; 6.4E-05
CUI: C3150419
Disease: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1
NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 		0.800 1.000 1 2010 2010
dbSNP: rs62237039
rs62237039 		1.000 0.080 22 40868537 intron variant T/G snv 2.2E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs766295553
rs766295553 		22 40861433 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs766295553
rs766295553 		22 40861433 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2002 2002