Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894324
rs104894324
AICDA
0.882 0.120 12 8606951 missense variant G/A snv 4.0E-06
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia 		0.010 1.000 1 2018 2018
dbSNP: rs104894324
rs104894324
AICDA
0.882 0.120 12 8606951 missense variant G/A snv 4.0E-06
CUI: C0398689
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 1
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.010 1.000 1 2015 2015
dbSNP: rs200858797
rs200858797
AICDA
1.000 0.120 12 8605226 missense variant A/G snv 1.6E-04 1.9E-04
CUI: C1720956
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 2
Hyper-IgM Immunodeficiency Syndrome, Type 2 		0.010 1.000 1 2016 2016
dbSNP: rs2028373
rs2028373
AICDA
1.000 0.080 12 8604885 missense variant G/A;T snv 0.60
CUI: C0004096
Disease: Asthma
Asthma 		0.010 < 0.001 1 2004 2004