Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553721236
rs1553721236
SEC61A1
A 0.700 GeneticVariation CLINVAR Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1). 28782633

2018
dbSNP: rs104894419
rs104894419
LIG4
A 0.700 CausalMutation CLINVAR Extreme growth failure is a common presentation of ligase IV deficiency. 24123394

2014
dbSNP: rs104894419
rs104894419
LIG4
A 0.700 CausalMutation CLINVAR DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. 11779494

2001
dbSNP: rs1057521737
rs1057521737
EP300
C 0.700 CausalMutation CLINVAR

dbSNP: rs1555119899
rs1555119899
ATM ; C11orf65
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1569292214
rs1569292214
BTK
T 0.700 CausalMutation CLINVAR