rs149830411, KANSL1

N. diseases: 15
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.
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
96 0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 0.700 0
Broad nasal tip
CUI: C0426429
Disease: Broad nasal tip
8 0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 0.700 0
Chromosome 17q21.31 Deletion Syndrome
CUI: C1864871
Disease: Chromosome 17q21.31 Deletion Syndrome
17 0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 0.700 0
Congenital Epicanthus
CUI: C0678230
Disease: Congenital Epicanthus
30 0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 0.700 0
Constipation
CUI: C0009806
Disease: Constipation
57 0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 0.700 0
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
50 0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 0.700 0
Multicystic Dysplastic Kidney
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
11 0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 0.700 0
Patent ductus arteriosus
CUI: C0013274
Disease: Patent ductus arteriosus
56 0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 0.700 0
Valgus deformities of feet
CUI: C1578482
Disease: Valgus deformities of feet
7 0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 0.700 0
Widely spaced teeth
CUI: C1844813
Disease: Widely spaced teeth
10 0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 0.700 0