rs281875322, SMAD4

N. diseases: 6
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Myhre syndrome
CUI: C0796081
Disease: Myhre syndrome
7 0.807 0.480 18 51078306 missense variant A/G snv 4.0E-06 0.820 1.000 4 2011 2020
Juvenile polyposis syndrome
CUI: C0345893
Disease: Juvenile polyposis syndrome
138 0.807 0.480 18 51078306 missense variant A/G snv 4.0E-06 0.700 1.000 7 2011 2016
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
CUI: C1832942
Disease: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
23 0.807 0.480 18 51078306 missense variant A/G snv 4.0E-06 0.700 0
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
322 0.807 0.480 18 51078306 missense variant A/G snv 4.0E-06 0.700 0
Polydactyly
CUI: C0152427
Disease: Polydactyly
43 0.807 0.480 18 51078306 missense variant A/G snv 4.0E-06 0.010 1.000 1 2020 2020
Precocious Puberty
CUI: C0034013
Disease: Precocious Puberty
20 0.807 0.480 18 51078306 missense variant A/G snv 4.0E-06 0.010 1.000 1 2020 2020