SF3A1, splicing factor 3a subunit 1, 10291

N. diseases: 10; N. variants: 3
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2283865
rs2283865 		22 30354918 intron variant G/A snv 0.31
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs765594577
rs765594577 		1.000 0.080 22 30339001 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs2074733
rs2074733 		0.925 0.120 22 30342598 non coding transcript exon variant T/C snv 0.53
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2074733
rs2074733 		0.925 0.120 22 30342598 non coding transcript exon variant T/C snv 0.53
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2015 2015