PODXL, podocalyxin like, 5420

N. diseases: 156; N. variants: 5
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: rs1554391082
rs1554391082 		1.000 0.040 7 131556270 frameshift variant -/GGCGACGG delins
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs3800684
rs3800684 		7 131507454 intron variant G/A;C snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs367825197
rs367825197 		0.925 0.080 7 131509412 stop gained G/A snv 4.0E-06
CUI: C0035078
Disease: Kidney Failure
Kidney Failure 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs367825197
rs367825197 		0.925 0.080 7 131509412 stop gained G/A snv 4.0E-06
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs760336723
rs760336723 		0.882 0.240 7 131506292 missense variant G/A snv 2.8E-05 5.6E-05
CUI: C0035078
Disease: Kidney Failure
Kidney Failure 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2004 2004
dbSNP: rs760336723
rs760336723 		0.882 0.240 7 131506292 missense variant G/A snv 2.8E-05 5.6E-05
CUI: C0178664
Disease: Glomerulosclerosis (disorder)
Glomerulosclerosis (disorder) 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases 0.010 1.000 1 2004 2004
dbSNP: rs760336723
rs760336723 		0.882 0.240 7 131506292 missense variant G/A snv 2.8E-05 5.6E-05
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs786204840
rs786204840 		1.000 0.080 7 131505926 missense variant A/C snv
CUI: C2919166
Disease: Autosomal dominant focal segmental glomerulosclerosis
Autosomal dominant focal segmental glomerulosclerosis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019