Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs281875324
rs281875324
SMAD4
1.000 0.120 18 51065456 missense variant A/C;G snv
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		0.800 1.000 2 1998 2002
dbSNP: rs281875324
rs281875324
SMAD4
1.000 0.120 18 51065456 missense variant A/C;G snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 7 1996 2007
dbSNP: rs281875324
rs281875324
SMAD4
1.000 0.120 18 51065456 missense variant A/C;G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2002 2012