ISL1, ISL LIM homeobox 1, 3670

N. diseases: 94; N. variants: 2
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: rs1017
rs1017 		1.000 0.040 5 51394261 3 prime UTR variant A/G;T snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.030 0.333 3 2012 2014
dbSNP: rs1017
rs1017 		1.000 0.040 5 51394261 3 prime UTR variant A/G;T snv
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.020 0.500 2 2012 2013
dbSNP: rs3762977
rs3762977 		5 51383180 non coding transcript exon variant A/G snv 0.15
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2013 2013