Source: BEFREE

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: rs111241405
rs111241405
ERFE
0.925 0.120 2 238164165 missense variant G/T snv 4.7E-02 1.6E-02
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.010 1.000 1 2019 2019
dbSNP: rs111241405
rs111241405
ERFE
0.925 0.120 2 238164165 missense variant G/T snv 4.7E-02 1.6E-02
CUI: C1306589
Disease: Congenital dyserythropoietic anemia, type II
Congenital dyserythropoietic anemia, type II 		0.010 1.000 1 2019 2019