Source: ALL

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: rs1000597
rs1000597 		0.925 0.120 7 30897563 intron variant T/A;C snv
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		0.830 1.000 3 2012 2017
dbSNP: rs1000597
rs1000597 		0.925 0.120 7 30897563 intron variant T/A;C snv
CUI: C0156257
Disease: Calculus of kidney and ureter
Calculus of kidney and ureter 		0.700 1.000 1 2012 2012
dbSNP: rs1000597
rs1000597 		0.925 0.120 7 30897563 intron variant T/A;C snv
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		0.030 1.000 3 2012 2017