SMO, smoothened, frizzled class receptor, 6608

N. diseases: 215; N. variants: 13
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: rs17710891
rs17710891
0.925 0.040 7 129209348 missense variant G/A;C snv 2.4E-05
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
Neoplasms 0.700 1.000 2 2009 2012
dbSNP: rs879255280
rs879255280
0.701 0.200 7 129206557 missense variant C/T snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
Neoplasms 0.010 1.000 1 2020 2020