Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519987
rs1057519987
TP53
0.776 0.280 17 7673810 missense variant A/C snv
CUI: C0265264
Disease: Holt-Oram syndrome
Holt-Oram syndrome 		0.010 1.000 1 2006 2006