GDI1, GDP dissociation inhibitor 1, 2664

N. diseases: 102; N. variants: 8
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: rs878853275
rs878853275 		1.000 X 154435762 missense variant G/A;T snv
CUI: C4310819
Disease: IMMUNODEFICIENCY 47
IMMUNODEFICIENCY 47 		0.800 1.000 1 2016 2016
dbSNP: rs878853277
rs878853277 		1.000 X 154435338 missense variant G/A snv
CUI: C4310819
Disease: IMMUNODEFICIENCY 47
IMMUNODEFICIENCY 47 		0.800 1.000 1 2016 2016
dbSNP: rs878853278
rs878853278 		1.000 X 154435153 missense variant A/G snv
CUI: C4310819
Disease: IMMUNODEFICIENCY 47
IMMUNODEFICIENCY 47 		0.800 1.000 1 2016 2016
dbSNP: rs121434607
rs121434607 		1.000 X 154439027 missense variant T/C snv
CUI: C3887939
Disease: MENTAL RETARDATION, X-LINKED 41
MENTAL RETARDATION, X-LINKED 41 		0.800 0
dbSNP: rs121434609
rs121434609 		1.000 X 154442596 missense variant G/C snv
CUI: C3887939
Disease: MENTAL RETARDATION, X-LINKED 41
MENTAL RETARDATION, X-LINKED 41 		0.800 0
dbSNP: rs1557198821
rs1557198821 		X 154441196 splice donor variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 8 1995 2011
dbSNP: rs121434608
rs121434608 		1.000 X 154438819 stop gained C/T snv
CUI: C3887939
Disease: MENTAL RETARDATION, X-LINKED 41
MENTAL RETARDATION, X-LINKED 41 		0.700 0
dbSNP: rs398122814
rs398122814 		1.000 X 154442420 frameshift variant AG/- delins
CUI: C3887939
Disease: MENTAL RETARDATION, X-LINKED 41
MENTAL RETARDATION, X-LINKED 41 		0.700 0