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: rs193922638
rs193922638
CEL
1.000 0.080 9 133071271 frameshift variant C/-;CC delins
CUI: C1853297
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION 		0.700 0
dbSNP: rs1469312062
rs1469312062
CEL
1.000 0.160 9 133071339 missense variant C/A;G;T snv 3.0E-05; 2.4E-04
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.010 < 0.001 1 2007 2007
dbSNP: rs488087
rs488087
CEL
0.925 0.120 9 133071212 synonymous variant C/A;T snv 0.11 0.26
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs488087
rs488087
CEL
0.925 0.120 9 133071212 synonymous variant C/A;T snv 0.11 0.26
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.010 1.000 1 2015 2015