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: rs1566883760
rs1566883760
KIAA0586
0.925 0.120 14 58487978 frameshift variant T/- delins
CUI: C0426817
Disease: Short ribs
Short ribs 		0.700 0