HOXD13, homeobox D13, 3239

N. diseases: 259; N. variants: 19
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: rs200750564
rs200750564
0.827 0.160 2 176094518 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C0152427
Disease: Polydactyly
Polydactyly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0