HJV, hemojuvelin BMP co-receptor, 148738

N. diseases: 71; N. variants: 22
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: rs1559279177
rs1559279177
0.851 0.160 1 146018661 frameshift variant G/- del
CUI: C0020619
Disease: Hypogonadism
Hypogonadism
Endocrine System Diseases 0.700 0