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: rs374514431
rs374514431
NFU1
2 0.925 0.040 2 69400462 missense variant C/A snv 1.5E-04 1.2E-04 0.810 1.000 1 2017 2017
dbSNP: rs1354126704
rs1354126704
NFU1
1 1.000 2 69406023 missense variant G/A snv 4.0E-06 7.0E-06 0.800 1.000 5 2011 2017
dbSNP: rs776875884
rs776875884
NFU1
1 1.000 2 69437361 missense variant C/G snv 0.700 1.000 5 2011 2017
dbSNP: rs756085990
rs756085990
NFU1
1 1.000 2 69406017 splice region variant C/T snv 1.6E-05 7.0E-06 0.700 0