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: rs1554317931
rs1554317931
GLI3
0.851 0.080 7 42045460 frameshift variant G/- delins
CUI: C1856889
Disease: 3-4 finger syndactyly
3-4 finger syndactyly 		0.700 0