Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554504663
rs1554504663
RHOBTB2
0.851 0.080 8 23007627 missense variant G/A snv
CUI: C4693899
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64 		0.800 1.000 2 2018 2018
dbSNP: rs1554504663
rs1554504663
RHOBTB2
0.851 0.080 8 23007627 missense variant G/A snv
CUI: C0009806
Disease: Constipation
Constipation 		0.700 0
dbSNP: rs1554504663
rs1554504663
RHOBTB2
0.851 0.080 8 23007627 missense variant G/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 0
dbSNP: rs1554504663
rs1554504663
RHOBTB2
0.851 0.080 8 23007627 missense variant G/A snv
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		0.700 0
dbSNP: rs1554504663
rs1554504663
RHOBTB2
0.851 0.080 8 23007627 missense variant G/A snv
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		0.700 0
dbSNP: rs1554504663
rs1554504663
RHOBTB2
0.851 0.080 8 23007627 missense variant G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1554504663
rs1554504663
RHOBTB2
0.851 0.080 8 23007627 missense variant G/A snv
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		0.700 0
dbSNP: rs1554504663
rs1554504663
RHOBTB2
0.851 0.080 8 23007627 missense variant G/A snv
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0
dbSNP: rs1554504663
rs1554504663
RHOBTB2
0.851 0.080 8 23007627 missense variant G/A snv
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		0.700 0
dbSNP: rs1554504663
rs1554504663
RHOBTB2
0.851 0.080 8 23007627 missense variant G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1554504663
rs1554504663
RHOBTB2
0.851 0.080 8 23007627 missense variant G/A snv
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.700 0