MED30, mediator complex subunit 30, 90390

N. diseases: 15; N. variants: 1
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: rs17667932
rs17667932
1.000 0.120 8 117537137 intron variant T/C snv 7.5E-02
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome
Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.800 1.000 1 2012 2012
dbSNP: rs17667932
rs17667932
1.000 0.120 8 117537137 intron variant T/C snv 7.5E-02
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement
0.700 1.000 1 2017 2017