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: rs1057524157
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 2 2017 2017