rs104894379, TBX5

N. diseases: 2
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.
Holt-Oram syndrome
CUI: C0265264
Disease: Holt-Oram syndrome
69 1.000 0.120 12 114398675 stop gained G/A;C;T snv 0.700 0
Pain
CUI: C0030193
Disease: Pain
196 1.000 0.120 12 114398675 stop gained G/A;C;T snv 0.010 1.000 1 2005 2005