rs1531070, MAML3

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.
Congenital Heart Defects
CUI: C0018798
Disease: Congenital Heart Defects
58 0.851 0.120 4 139874173 intron variant G/A snv 0.30 0.800 1.000 1 2013 2013
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
CUI: C3151867
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
3 0.851 0.120 4 139874173 intron variant G/A snv 0.30 0.800 1.000 1 2013 2013
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2
CUI: C3554279
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2
8 0.851 0.120 4 139874173 intron variant G/A snv 0.30 0.800 1.000 1 2013 2013
Congenital malformation of cardiac chambers and connections, unspecified
CUI: C0478009
Disease: Congenital malformation of cardiac chambers and connections, unspecified
2 0.851 0.120 4 139874173 intron variant G/A snv 0.30 0.800 1.000 1 2013 2013
HETEROTAXY, VISCERAL, 1, X-LINKED
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
17 0.851 0.120 4 139874173 intron variant G/A snv 0.30 0.800 1.000 1 2013 2013
Other congenital anomalies of heart
CUI: C0158611
Disease: Other congenital anomalies of heart
2 0.851 0.120 4 139874173 intron variant G/A snv 0.30 0.800 1.000 1 2013 2013