GORAB, golgin, RAB6 interacting, 92344

N. diseases: 60; N. variants: 7
Disease: Geroderma osteodysplastica ×
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: rs1085307068
rs1085307068 		1.000 0.160 1 170539555 frameshift variant GA/- delins
CUI: C0432255
Disease: Geroderma osteodysplastica
Geroderma osteodysplastica 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 1 2008 2008
dbSNP: rs1557999318
rs1557999318 		1.000 0.160 1 170532148 start lost GA/CT mnv
CUI: C0432255
Disease: Geroderma osteodysplastica
Geroderma osteodysplastica 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 1 2008 2008
dbSNP: rs119455951
rs119455951 		1.000 0.160 1 170539515 stop gained G/A;T snv 1.2E-05
CUI: C0432255
Disease: Geroderma osteodysplastica
Geroderma osteodysplastica 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs119455952
rs119455952 		1.000 0.160 1 170552136 stop gained C/T snv 1.2E-05
CUI: C0432255
Disease: Geroderma osteodysplastica
Geroderma osteodysplastica 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs183596463
rs183596463 		1.000 0.160 1 170544841 missense variant G/A;C;T snv 2.4E-05
CUI: C0432255
Disease: Geroderma osteodysplastica
Geroderma osteodysplastica 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs749490786
rs749490786 		1.000 0.160 1 170544832 missense variant T/C snv 6.0E-05 7.0E-06
CUI: C0432255
Disease: Geroderma osteodysplastica
Geroderma osteodysplastica 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0