RHOT1, ras homolog family member T1, 55288

N. diseases: 20; N. variants: 3
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs7216187
rs7216187 		0.925 0.040 17 32217220 intron variant G/A;C snv
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs7216187
rs7216187 		0.925 0.040 17 32217220 intron variant G/A;C snv
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs762102262
rs762102262 		1.000 0.120 17 32203905 missense variant C/G;T snv 1.2E-05; 8.0E-06
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs772918193
rs772918193 		0.882 0.080 17 32208230 missense variant C/G;T snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs772918193
rs772918193 		0.882 0.080 17 32208230 missense variant C/G;T snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2012 2012
dbSNP: rs772918193
rs772918193 		0.882 0.080 17 32208230 missense variant C/G;T snv
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		Nervous System Diseases 0.010 1.000 1 2012 2012