RET, ret proto-oncogene, 5979

N. diseases: 607; N. variants: 162
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: rs76397662
rs76397662
0.851 0.200 10 43102345 missense variant G/A snv 7.9E-04 2.9E-04
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases 0.700 1.000 4 1998 2010
dbSNP: rs552057730
rs552057730
1.000 0.120 10 43111238 missense variant C/A;T snv 8.0E-06; 1.6E-05
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases 0.700 1.000 3 1998 2003
dbSNP: rs79853121
rs79853121
1.000 0.120 10 43126651 missense variant C/A;T snv 3.6E-05
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases 0.700 1.000 3 1998 2003
dbSNP: rs192489011
rs192489011
1.000 0.120 10 43100585 missense variant G/A;T snv 1.1E-03; 4.0E-06
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases 0.700 0
dbSNP: rs377767412
rs377767412
0.790 0.240 10 43114547 synonymous variant G/A snv
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases 0.700 0
dbSNP: rs76262710
rs76262710
0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases 0.700 0
dbSNP: rs79658334
rs79658334
0.662 0.360 10 43119548 missense variant G/A;C;T snv 1.2E-04; 4.3E-06
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases 0.700 0