Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs760889414
rs760889414
1.000 14 64419871 stop gained G/T snv 1.6E-05
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
0.700 1.000 1 2015 2015
dbSNP: rs1555336810
rs1555336810
1.000 14 64411115 missense variant T/C snv
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
0.800 1.000 3 2011 2017
dbSNP: rs1555337681
rs1555337681
1.000 14 64424882 missense variant C/T snv
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
0.800 1.000 3 2011 2017
dbSNP: rs370444838
rs370444838
1.000 14 64411109 missense variant C/T snv 1.3E-04 1.1E-04
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
0.800 1.000 3 2011 2017
dbSNP: rs141210410
rs141210410
1.000 14 64417926 missense variant C/T snv 3.6E-05 7.0E-05
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
0.800 1.000 1 2011 2011