rs727503030, ELN

N. diseases: 6
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Supravalvular aortic stenosis
CUI: C0003499
Disease: Supravalvular aortic stenosis
38 0.925 0.040 7 74054770 splice donor variant G/A snv 6.0E-05 6.3E-05 0.700 1.000 2 1997 2000
Abnormality of digit
CUI: C3550704
Disease: Abnormality of digit
9 0.925 0.040 7 74054770 splice donor variant G/A snv 6.0E-05 6.3E-05 0.700 0
Congenital abnormality of vein
CUI: C2937220
Disease: Congenital abnormality of vein
7 0.925 0.040 7 74054770 splice donor variant G/A snv 6.0E-05 6.3E-05 0.700 0
CUTIS LAXA, AUTOSOMAL DOMINANT 1
CUI: C3276539
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 1
1 0.925 0.040 7 74054770 splice donor variant G/A snv 6.0E-05 6.3E-05 0.700 0
Dural ectasia
CUI: C1851712
Disease: Dural ectasia
1 0.925 0.040 7 74054770 splice donor variant G/A snv 6.0E-05 6.3E-05 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.925 0.040 7 74054770 splice donor variant G/A snv 6.0E-05 6.3E-05 0.700 0