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: rs1085307132
rs1085307132
PUF60 ; SCRIB
0.882 0.160 8 143817668 frameshift variant -/TTTT delins
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.700 0