rs398124401, SRD5A3

N. diseases: 26
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.
Congenital disorder of glycosylation type 1q
CUI: C4317224
Disease: Congenital disorder of glycosylation type 1q
6 0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 0.700 1.000 2 2010 2012
Abnormal isoelectric focusing of serum transferrin
CUI: C2749688
Disease: Abnormal isoelectric focusing of serum transferrin
10 0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 0.700 0
Antithrombin III Deficiency
CUI: C0272375
Disease: Antithrombin III Deficiency
52 0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 0.700 0
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
395 0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 0.700 0
Brachycephaly
CUI: C0221356
Disease: Brachycephaly
20 0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 0.700 0
Cerebellar vermis hypoplasia
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
26 0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 0.700 0
Cone Dystrophy
CUI: C0730290
Disease: Cone Dystrophy
31 0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 0.700 0
Congenital Disorders of Glycosylation
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
38 0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 0.700 0
Congenital ocular coloboma (disorder)
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
21 0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 0.700 0
Convex nasal ridge
CUI: C0240538
Disease: Convex nasal ridge
8 0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 0.700 0
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
39 0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 0.700 0
Hyperpigmentation
CUI: C0162834
Disease: Hyperpigmentation
11 0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 0.700 0
Hypertrichosis
CUI: C0020555
Disease: Hypertrichosis
27 0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 0.700 0
Hypoplasia of the optic nerve
CUI: C0338502
Disease: Hypoplasia of the optic nerve
14 0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 0.700 0
Hypoplasia of the pituitary gland
CUI: C0948740
Disease: Hypoplasia of the pituitary gland
1 0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 0.700 0
Ichthyoses
CUI: C0020757
Disease: Ichthyoses
18 0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 0.700 0
Low Vision
CUI: C0042798
Disease: Low Vision
51 0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 0.700 0
Polymicrogyria
CUI: C0266464
Disease: Polymicrogyria
29 0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 0.700 0
Uranostaphyloschisis
CUI: C2981150
Disease: Uranostaphyloschisis
75 0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 0.700 0