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: rs755604487
rs755604487
PHIP
0.790 0.200 6 79026079 stop gained G/A;C snv
CUI: C0041960
Disease: Ureterocele
Ureterocele 		0.700 0