MED29, mediator complex subunit 29, 55588

N. diseases: 4; 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: rs1057745
rs1057745
1.000 0.160 19 39397750 missense variant G/A;C snv 1.3E-05; 0.13
CUI: C0339143
Disease: Thyroid associated opthalmopathies
Thyroid associated opthalmopathies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs78380192
rs78380192
1.000 0.040 19 39391457 missense variant C/T snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
Neoplasms 0.010 1.000 1 2001 2001