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: rs879253768
rs879253768
AGBL5
2 0.925 0.080 2 27055228 missense variant G/A snv 4.0E-06 1.4E-05 0.800 1.000 4 2015 2016
dbSNP: rs879253769
rs879253769
AGBL5
1 1.000 2 27055171 missense variant C/T snv 7.0E-06 0.800 1.000 4 2015 2016
dbSNP: rs780394281
rs780394281
AGBL5
1 1.000 2 27055186 missense variant C/T snv 8.0E-06 0.700 1.000 4 2015 2016