RNF125, ring finger protein 125, 54941

N. diseases: 57; N. variants: 3
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: rs370242930
rs370242930
1.000 18 32065917 missense variant C/T snv 2.0E-05 7.0E-06
CUI: C4015710
Disease: TENORIO SYNDROME
TENORIO SYNDROME
0.800 1.000 1 2014 2014
dbSNP: rs786201014
rs786201014
1.000 18 32042196 missense variant G/A snv
CUI: C4015710
Disease: TENORIO SYNDROME
TENORIO SYNDROME
0.800 1.000 1 2014 2014
dbSNP: rs373764886
rs373764886
1.000 18 32045716 stop gained C/A;T snv 4.0E-05
CUI: C4015710
Disease: TENORIO SYNDROME
TENORIO SYNDROME
0.700 1.000 1 2014 2014