THOC2, THO complex 2, 57187

N. diseases: 59; N. variants: 9
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: rs797045018
rs797045018 		1.000 X 123665715 missense variant A/G snv
CUI: C0796218
Disease: MENTAL RETARDATION, X-LINKED 12
MENTAL RETARDATION, X-LINKED 12 		0.800 0
dbSNP: rs797045019
rs797045019 		1.000 X 123668239 missense variant G/A snv
CUI: C0796218
Disease: MENTAL RETARDATION, X-LINKED 12
MENTAL RETARDATION, X-LINKED 12 		0.800 0
dbSNP: rs797045020
rs797045020 		1.000 X 123625935 missense variant A/G snv
CUI: C0796218
Disease: MENTAL RETARDATION, X-LINKED 12
MENTAL RETARDATION, X-LINKED 12 		0.800 0
dbSNP: rs797045021
rs797045021 		1.000 X 123631770 missense variant A/G snv
CUI: C0796218
Disease: MENTAL RETARDATION, X-LINKED 12
MENTAL RETARDATION, X-LINKED 12 		0.800 0
dbSNP: rs1556005930
rs1556005930 		1.000 X 123613710 splice acceptor variant T/C snv
CUI: C0796218
Disease: MENTAL RETARDATION, X-LINKED 12
MENTAL RETARDATION, X-LINKED 12 		0.700 0
dbSNP: rs1556014935
rs1556014935 		1.000 X 123623228 missense variant G/A snv
CUI: C0796218
Disease: MENTAL RETARDATION, X-LINKED 12
MENTAL RETARDATION, X-LINKED 12 		0.700 0
dbSNP: rs1556015437
rs1556015437 		1.000 X 123623783 splice region variant T/G snv
CUI: C0796218
Disease: MENTAL RETARDATION, X-LINKED 12
MENTAL RETARDATION, X-LINKED 12 		0.700 0
dbSNP: rs1556023928
rs1556023928 		1.000 X 123633039 missense variant C/T snv
CUI: C0796218
Disease: MENTAL RETARDATION, X-LINKED 12
MENTAL RETARDATION, X-LINKED 12 		0.700 0
dbSNP: rs1556024875
rs1556024875 		0.882 0.160 X 123634002 missense variant G/A snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1556024875
rs1556024875 		0.882 0.160 X 123634002 missense variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 0
dbSNP: rs1556024875
rs1556024875 		0.882 0.160 X 123634002 missense variant G/A snv
CUI: C0796218
Disease: MENTAL RETARDATION, X-LINKED 12
MENTAL RETARDATION, X-LINKED 12 		0.700 0
dbSNP: rs1556024875
rs1556024875 		0.882 0.160 X 123634002 missense variant G/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0