rs28939675, TBX1

N. diseases: 3
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.
Shprintzen syndrome
CUI: C0220704
Disease: Shprintzen syndrome
3 0.882 0.200 22 19763273 missense variant T/A snv 0.700 1.000 2 2003 2007
CONOTRUNCAL ANOMALY FACE SYNDROME/VELOCARDIOFACIAL SYNDROME
CUI: C4016770
Disease: CONOTRUNCAL ANOMALY FACE SYNDROME/VELOCARDIOFACIAL SYNDROME
1 0.882 0.200 22 19763273 missense variant T/A snv 0.700 0
CONOTRUNCAL HEART MALFORMATIONS (disorder)
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
22 0.882 0.200 22 19763273 missense variant T/A snv 0.700 0