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: rs1568718508
rs1568718508
RIN2
1.000 0.200 20 19992201 frameshift variant -/C delins
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0