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: rs869320706
rs869320706
MET
7 116771971 splice donor variant GAGCTACTTTTCCAGAAGGTATATTTC/- delins
CUI: C4085248
Disease: OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO
OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs869320707
rs869320707
MET
7 116771990 splice donor variant G/T snv
CUI: C4085248
Disease: OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO
OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO 		0.700 0