Source: CLINVAR

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: rs1057516039
rs1057516039
KMT2D
0.882 0.280 12 49029400 splice donor variant C/T snv
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.700 1.000 1 2016 2016