PXDN, peroxidasin, 7837

N. diseases: 51; N. variants: 8
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: rs587777572
rs587777572 		1.000 2 1649142 missense variant G/A;C snv 4.1E-06
CUI: C3151617
Disease: ANTERIOR SEGMENT DYSGENESIS 7
ANTERIOR SEGMENT DYSGENESIS 7 		0.800 1.000 1 2011 2011
dbSNP: rs34008669
rs34008669 		2 1706007 intron variant A/G snv 0.58
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs73178769
rs73178769 		2 1641864 intron variant A/G snv 8.3E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1558489563
rs1558489563 		1.000 0.080 2 1649321 missense variant T/C snv
CUI: C1862839
Disease: Anterior segment mesenchymal dysgenesis
Anterior segment mesenchymal dysgenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs369535598
rs369535598 		1.000 2 1666484 stop gained G/A snv 8.4E-06
CUI: C3151617
Disease: ANTERIOR SEGMENT DYSGENESIS 7
ANTERIOR SEGMENT DYSGENESIS 7 		0.700 0
dbSNP: rs558163499
rs558163499 		1.000 2 1649212 frameshift variant G/-;GG delins
CUI: C3151617
Disease: ANTERIOR SEGMENT DYSGENESIS 7
ANTERIOR SEGMENT DYSGENESIS 7 		0.700 0
dbSNP: rs587777573
rs587777573 		1.000 2 1649383 frameshift variant ACACCAGGCGCGGCATGGGAAGG/- delins 4.0E-06
CUI: C3151617
Disease: ANTERIOR SEGMENT DYSGENESIS 7
ANTERIOR SEGMENT DYSGENESIS 7 		0.700 0
dbSNP: rs1410349925
rs1410349925 		0.925 0.080 2 1648284 missense variant C/T snv 4.0E-06
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1410349925
rs1410349925 		0.925 0.080 2 1648284 missense variant C/T snv 4.0E-06
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		Eye Diseases 0.010 1.000 1 2016 2016