BMP7, bone morphogenetic protein 7, 655

N. diseases: 197; 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: rs1555815731
rs1555815731
20 57228383 frameshift variant G/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 3 2007 2014
dbSNP: rs117553902
rs117553902
20 57169375 3 prime UTR variant C/T snv 1.3E-03
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure)
0.700 1.000 1 2016 2016
dbSNP: rs1264171723
rs1264171723
1.000 0.040 20 57266050 missense variant G/A snv 7.0E-06
CUI: C0025202
Disease: melanoma
melanoma
Neoplasms 0.010 1.000 1 2008 2008