rs1554504663, RHOBTB2

N. diseases: 11
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.
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64
6 0.851 0.080 8 23007627 missense variant G/A snv 0.800 1.000 2 2018 2018
2-3 toe syndactyly
CUI: C4551570
Disease: 2-3 toe syndactyly
16 0.851 0.080 8 23007627 missense variant G/A snv 0.700 0
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.851 0.080 8 23007627 missense variant G/A snv 0.700 0
Cafe-au-Lait Spots
CUI: C0221263
Disease: Cafe-au-Lait Spots
32 0.851 0.080 8 23007627 missense variant G/A snv 0.700 0
Central hypotonia
CUI: C1842364
Disease: Central hypotonia
25 0.851 0.080 8 23007627 missense variant G/A snv 0.700 0
Constipation
CUI: C0009806
Disease: Constipation
57 0.851 0.080 8 23007627 missense variant G/A snv 0.700 0
Dystonia
CUI: C0013421
Disease: Dystonia
97 0.851 0.080 8 23007627 missense variant G/A snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.080 8 23007627 missense variant G/A snv 0.700 0
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.851 0.080 8 23007627 missense variant G/A snv 0.700 0
Port-Wine Stain
CUI: C0235752
Disease: Port-Wine Stain
10 0.851 0.080 8 23007627 missense variant G/A snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.851 0.080 8 23007627 missense variant G/A snv 0.700 0