Source: BEFREE

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: rs104894556
rs104894556
COX10
1.000 0.080 17 14159926 missense variant C/G;T snv 1.2E-05
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis 		0.010 1.000 1 2019 2019
dbSNP: rs753950876
rs753950876
PUS1
12 131941508 missense variant C/T snv 8.0E-06
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis 		0.010 1.000 1 2019 2019