rs74315522, TBX1

N. diseases: 1
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 1.000 0.200 22 19764224 missense variant C/G snv 0.800 1.000 4 2003 2016