FBXO31, F-box protein 31, 79791

N. diseases: 66; 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: rs587777703
rs587777703 		1.000 16 87335448 frameshift variant CAGGCA/T delins
CUI: C4014864
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45 		0.700 0
dbSNP: rs933717
rs933717 		1.000 0.080 16 87381644 intron variant T/C snv 0.42
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2018 2018