SLC3A1, solute carrier family 3 member 1, 6519

N. diseases: 84; N. variants: 54
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs778000327
rs778000327
0.925 0.120 2 44280877 frameshift variant G/- del 2.7E-04
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018