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: rs1557182317
rs1557182317
EMD
0.925 0.160 X 154379790 frameshift variant -/T delins
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs1557182317
rs1557182317
EMD
0.925 0.160 X 154379790 frameshift variant -/T delins
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		0.700 0
dbSNP: rs1557182317
rs1557182317
EMD
0.925 0.160 X 154379790 frameshift variant -/T delins
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 0