CYB5A, cytochrome b5 type A, 1528

N. diseases: 95; N. variants: 4
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: rs1555688659
rs1555688659 		1.000 18 74263476 missense variant T/A snv
CUI: C4285231
Disease: METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA
METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA 		0.800 1.000 3 1994 2012
dbSNP: rs1555691399
rs1555691399 		1.000 18 74291795 stop gained C/T snv
CUI: C4285231
Disease: METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA
METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA 		0.700 0
dbSNP: rs794728010
rs794728010 		1.000 18 74263479 splice acceptor variant T/C snv
CUI: C4285231
Disease: METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA
METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA 		0.700 0
dbSNP: rs1790834
rs1790834 		1.000 0.120 18 74281022 intron variant G/A snv 0.17
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2015 2015