Disease: SCHWANNOMATOSIS 1 ×
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: rs267607072
rs267607072 		1.000 0.160 22 23787261 missense variant A/T snv
CUI: C4048809
Disease: SCHWANNOMATOSIS 1
SCHWANNOMATOSIS 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs387906811
rs387906811 		1.000 0.160 22 23791805 missense variant C/T snv
CUI: C4048809
Disease: SCHWANNOMATOSIS 1
SCHWANNOMATOSIS 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587776679
rs587776679 		1.000 0.160 22 23791865 splice donor variant ATGGTAAAAAAACA/TACC delins
CUI: C4048809
Disease: SCHWANNOMATOSIS 1
SCHWANNOMATOSIS 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs74315513
rs74315513 		0.925 0.160 22 23787203 stop gained C/T snv
CUI: C4048809
Disease: SCHWANNOMATOSIS 1
SCHWANNOMATOSIS 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs878854600
rs878854600 		0.851 0.240 22 23834262 3 prime UTR variant C/T snv
CUI: C4048809
Disease: SCHWANNOMATOSIS 1
SCHWANNOMATOSIS 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0