Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2233152
rs2233152
MIA ; MIA-RAB4B
1.000 0.120 19 40775111 intron variant G/A;T snv
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.800 1.000 1 2012 2012
dbSNP: rs2233154
rs2233154
MIA ; MIA-RAB4B
19 40775441 intron variant C/T snv 0.10
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018