HOXB13, homeobox B13, 10481

N. diseases: 90; N. variants: 3
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: rs138213197
rs138213197
0.701 0.240 17 48728343 missense variant C/T snv 1.8E-03 1.6E-03
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 26 1996 2017