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: rs1114167303
rs1114167303
SON
0.925 0.120 21 33553079 frameshift variant GGTAT/- delins
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 1.000 1 2016 2016