rs1057518879, PLOD1

N. diseases: 19
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Bilateral Cryptorchidism
CUI: C0431663
Disease: Bilateral Cryptorchidism
9 0.776 0.280 1 11965571 stop gained G/A snv 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.776 0.280 1 11965571 stop gained G/A snv 0.700 0
Congenital omphalocele
CUI: C0795690
Disease: Congenital omphalocele
13 0.776 0.280 1 11965571 stop gained G/A snv 0.700 0
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
39 0.776 0.280 1 11965571 stop gained G/A snv 0.700 0
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.776 0.280 1 11965571 stop gained G/A snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.776 0.280 1 11965571 stop gained G/A snv 0.700 0
Generalized neonatal hypotonia
CUI: C1845123
Disease: Generalized neonatal hypotonia
3 0.776 0.280 1 11965571 stop gained G/A snv 0.700 0
Hydrocephalus
CUI: C0020255
Disease: Hydrocephalus
37 0.776 0.280 1 11965571 stop gained G/A snv 0.700 0
Hypoplasia of scrotum
CUI: C0431659
Disease: Hypoplasia of scrotum
3 0.776 0.280 1 11965571 stop gained G/A snv 0.700 0
Long narrow head
CUI: C0221358
Disease: Long narrow head
26 0.776 0.280 1 11965571 stop gained G/A snv 0.700 0
Macrocephaly at birth
CUI: C1836599
Disease: Macrocephaly at birth
6 0.776 0.280 1 11965571 stop gained G/A snv 0.700 0
Narrow thorax
CUI: C0426790
Disease: Narrow thorax
18 0.776 0.280 1 11965571 stop gained G/A snv 0.700 0
Neonatal Hypotonia
CUI: C2267233
Disease: Neonatal Hypotonia
45 0.776 0.280 1 11965571 stop gained G/A snv 0.700 0
Porencephalic cyst
CUI: C4082172
Disease: Porencephalic cyst
2 0.776 0.280 1 11965571 stop gained G/A snv 0.700 0
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
46 0.776 0.280 1 11965571 stop gained G/A snv 0.700 0
Severe global developmental delay
CUI: C1837397
Disease: Severe global developmental delay
50 0.776 0.280 1 11965571 stop gained G/A snv 0.700 0
Short lower third of face
CUI: C3697248
Disease: Short lower third of face
3 0.776 0.280 1 11965571 stop gained G/A snv 0.700 0
Thoracolumbar scoliosis
CUI: C0749379
Disease: Thoracolumbar scoliosis
17 0.776 0.280 1 11965571 stop gained G/A snv 0.700 0
Umbilical hernia
CUI: C0019322
Disease: Umbilical hernia
17 0.776 0.280 1 11965571 stop gained G/A snv 0.700 0