Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434422
rs121434422
GDF1 ; CERS1
T 0.700 CausalMutation CLINVAR

dbSNP: rs606231383
rs606231383
GDF1 ; CERS1
CG 0.700 CausalMutation CLINVAR

dbSNP: rs753643819
rs753643819
GDF1 ; UPF1 ; CERS1
C 0.700 CausalMutation CLINVAR

dbSNP: rs886039815
rs886039815
TCTEX1D2
A 0.700 CausalMutation CLINVAR

dbSNP: rs753050115
rs753050115
DNAH5
0.010 GeneticVariation BEFREE The mutation of p.Glu2610Gly in DNAH5 is novel and we here present a first Japanese case of asplenia syndrome who exhibited a DNAH5 mutation. 24912412

2015