Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs149474339
rs149474339
CSTA
0.710 GeneticVariation BEFREE Candidate gene analysis revealed a previously unknown homozygous loss-of-function mutation c.172C>T (p.Arg58Ter) in CSTA, and immunostaining showed absence of epidermal cystatin A, confirming the diagnosis of AREI. 25400170

2015
dbSNP: rs149474339
rs149474339
CSTA
T 0.710 CausalMutation CLINVAR

dbSNP: rs387906689
rs387906689
CSTA
T 0.700 CausalMutation CLINVAR

dbSNP: rs398122804
rs398122804
CSTA
T 0.700 CausalMutation CLINVAR

dbSNP: rs747711488
rs747711488
CSTA
T 0.700 CausalMutation CLINVAR