rs1553154130, RERE

N. diseases: 18
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.
11 pairs of ribs
CUI: C1839731
Disease: 11 pairs of ribs
3 0.807 0.280 1 8358231 missense variant T/A;C snv 0.700 0
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
96 0.807 0.280 1 8358231 missense variant T/A;C snv 0.700 0
Brachydactyly
CUI: C0221357
Disease: Brachydactyly
43 0.807 0.280 1 8358231 missense variant T/A;C snv 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.807 0.280 1 8358231 missense variant T/A;C snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.807 0.280 1 8358231 missense variant T/A;C snv 0.700 0
Hyperconvex toenail
CUI: C4022661
Disease: Hyperconvex toenail
1 0.807 0.280 1 8358231 missense variant T/A;C snv 0.700 0
Hypoplastic feet
CUI: C1848673
Disease: Hypoplastic feet
21 0.807 0.280 1 8358231 missense variant T/A;C snv 0.700 0
Intermenstrual heavy bleeding
CUI: C0232943
Disease: Intermenstrual heavy bleeding
1 0.807 0.280 1 8358231 missense variant T/A;C snv 0.700 0
Macrotia
CUI: C0152421
Disease: Macrotia
18 0.807 0.280 1 8358231 missense variant T/A;C snv 0.700 0
Melanocortin 4 Receptor Deficiency
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
28 0.807 0.280 1 8358231 missense variant T/A;C snv 0.700 0
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.807 0.280 1 8358231 missense variant T/A;C snv 0.700 0
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART
CUI: C4310772
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART
11 0.807 0.280 1 8358231 missense variant T/A;C snv 0.700 0
Overfolded helix
CUI: C1837731
Disease: Overfolded helix
7 0.807 0.280 1 8358231 missense variant T/A;C snv 0.700 0
Preauricular dimple
CUI: C0266610
Disease: Preauricular dimple
5 0.807 0.280 1 8358231 missense variant T/A;C snv 0.700 0
Short palm
CUI: C1843108
Disease: Short palm
13 0.807 0.280 1 8358231 missense variant T/A;C snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.807 0.280 1 8358231 missense variant T/A;C snv 0.700 0
Small hand
CUI: C0575802
Disease: Small hand
31 0.807 0.280 1 8358231 missense variant T/A;C snv 0.700 0
Upward slant of palpebral fissure
CUI: C0423109
Disease: Upward slant of palpebral fissure
16 0.807 0.280 1 8358231 missense variant T/A;C snv 0.700 0