Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1356418704
rs1356418704
GLB1
1 1.000 0.160 3 32997112 missense variant G/A snv 0.010 1.000 1 2001 2001
dbSNP: rs193922915
rs193922915
NEU1
2 0.925 0.160 6 31859879 missense variant A/G snv 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs28940583
rs28940583
CYP21A2 ; NEU1
3 0.882 0.160 6 31860588 missense variant C/T snv 5.6E-05 1.7E-04 0.010 1.000 1 2010 2010
dbSNP: rs368108194
rs368108194
CTSA
1 1.000 0.160 20 45895076 missense variant C/T snv 5.2E-05 7.7E-05 0.010 1.000 1 2001 2001