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: rs201701259
rs201701259
NHLRC2
2 0.925 0.040 10 113876631 missense variant G/T snv 4.1E-04 4.5E-04 0.810 1.000 2 2018 2018
dbSNP: rs757267294
rs757267294
NHLRC2
1 1.000 10 113876790 frameshift variant AG/- del 4.0E-06; 4.0E-05 3.5E-05 0.700 0