TSPAN7, tetraspanin 7, 7102

N. diseases: 87; N. variants: 2
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: rs104894951
rs104894951
1.000 0.080 X 38675778 missense variant C/A;G snv 9.3E-04; 5.5E-06
CUI: C1846174
Disease: Mental Retardation, X-Linked 58
Mental Retardation, X-Linked 58
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 1 2000 2000
dbSNP: rs104894950
rs104894950
1.000 0.080 X 38681258 stop gained G/T snv
CUI: C1846174
Disease: Mental Retardation, X-Linked 58
Mental Retardation, X-Linked 58
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0