ITGB1, integrin subunit beta 1, 3688

N. diseases: 210; N. variants: 4
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: rs1565818580
rs1565818580 		0.925 0.080 10 32908395 frameshift variant -/T delins
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1565818580
rs1565818580 		0.925 0.080 10 32908395 frameshift variant -/T delins
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1187075
rs1187075 		1.000 0.080 10 32957868 5 prime UTR variant A/G;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs17468
rs17468 		1.000 0.080 10 32901357 3 prime UTR variant G/A;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs2230395
rs2230395 		1.000 0.080 10 32922299 synonymous variant T/A;G snv 0.13 0.15
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015