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: rs1564123602
rs1564123602
INVS
1.000 0.080 9 100126450 frameshift variant -/CAGA delins
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.700 0