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: rs121912577
rs121912577
SMAD4
0.925 0.160 18 51067115 stop gained C/G;T snv 8.0E-06
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		0.700 0
dbSNP: rs121912577
rs121912577
SMAD4
0.925 0.160 18 51067115 stop gained C/G;T snv 8.0E-06
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.700 0