Source: UNIPROT

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: rs368796166
rs368796166
SLC3A1 ; PREPL
1.000 0.120 2 44320221 stop gained C/A;G;T snv 2.0E-05; 3.6E-05
CUI: C0010691
Disease: Cystinuria
Cystinuria 		0.700 1.000 12 1994 2010