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: rs104894203
rs104894203 		0.925 0.200 11 67365224 missense variant C/A;T snv
CUI: C1853198
Disease: COLD-INDUCED SWEATING SYNDROME 2
COLD-INDUCED SWEATING SYNDROME 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 1 2006 2006
dbSNP: rs104894198
rs104894198 		0.925 0.200 11 67365493 stop gained G/A;T snv 8.0E-06
CUI: C1832409
Disease: Crisponi syndrome
Crisponi syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs104894198
rs104894198 		0.925 0.200 11 67365493 stop gained G/A;T snv 8.0E-06
CUI: C1853198
Disease: COLD-INDUCED SWEATING SYNDROME 2
COLD-INDUCED SWEATING SYNDROME 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs104894203
rs104894203 		0.925 0.200 11 67365224 missense variant C/A;T snv
CUI: C1832409
Disease: Crisponi syndrome
Crisponi syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs137853934
rs137853934 		0.925 0.200 11 67367597 missense variant A/G snv
CUI: C1853198
Disease: COLD-INDUCED SWEATING SYNDROME 2
COLD-INDUCED SWEATING SYNDROME 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs137853934
rs137853934 		0.925 0.200 11 67367597 missense variant A/G snv
CUI: C1832409
Disease: Crisponi syndrome
Crisponi syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs137853935
rs137853935 		1.000 0.200 11 67365138 stop lost A/G snv
CUI: C1832409
Disease: Crisponi syndrome
Crisponi syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0