Source: ALL

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: rs80338965
rs80338965
SMAD4
0.851 0.480 18 51067121 frameshift variant CAGA/- delins
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		0.700 1.000 12 1998 2017
dbSNP: rs80338965
rs80338965
SMAD4
0.851 0.480 18 51067121 frameshift variant CAGA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 11 1998 2017
dbSNP: rs80338965
rs80338965
SMAD4
0.851 0.480 18 51067121 frameshift variant CAGA/- delins
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.700 0
dbSNP: rs80338965
rs80338965
SMAD4
0.851 0.480 18 51067121 frameshift variant CAGA/- delins
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome 		0.700 0
dbSNP: rs80338965
rs80338965
SMAD4
0.851 0.480 18 51067121 frameshift variant CAGA/- delins
CUI: C1832942
Disease: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder) 		0.700 0