Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060499548
rs1060499548
ABL1
A 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113

2017
dbSNP: rs137854544
rs137854544
CTSA
A 0.700 CausalMutation CLINVAR Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. 24769197

2014
dbSNP: rs875989777
rs875989777
CTSA
C 0.700 CausalMutation CLINVAR Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. 24769197

2014
dbSNP: rs137854544
rs137854544
CTSA
A 0.700 CausalMutation CLINVAR Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. 10944848

2000
dbSNP: rs875989777
rs875989777
CTSA
C 0.700 CausalMutation CLINVAR Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. 10944848

2000
dbSNP: rs137854544
rs137854544
CTSA
A 0.700 CausalMutation CLINVAR Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. 8968752

1996
dbSNP: rs875989777
rs875989777
CTSA
C 0.700 CausalMutation CLINVAR Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. 8968752

1996
dbSNP: rs1057518681
rs1057518681
PUF60 ; SCRIB
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518813
rs1057518813
ERCC5 ; BIVM-ERCC5
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518909
rs1057518909
FBN1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1060505041
rs1060505041
NACC1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1064795388
rs1064795388
PUF60 ; NRBP2 ; LOC107986985
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1064795559
rs1064795559
MORC2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307137
rs1085307137
PUF60
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307138
rs1085307138
PUF60 ; SCRIB
T 0.700 GeneticVariation CLINVAR

dbSNP: rs112550005
rs112550005
FBN1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1163944538
rs1163944538
TMEM94
GA 0.700 CausalMutation CLINVAR

dbSNP: rs121912651
rs121912651
TP53
A 0.700 CausalMutation CLINVAR

dbSNP: rs121918457
rs121918457
PTPN11
T 0.700 CausalMutation CLINVAR

dbSNP: rs1232880706
rs1232880706
FBN1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1352010373
rs1352010373
TMEM94
C 0.700 CausalMutation CLINVAR

dbSNP: rs137852814
rs137852814
SOS1
C 0.700 CausalMutation CLINVAR

dbSNP: rs137852981
rs137852981
ZEB2
A 0.700 CausalMutation CLINVAR

dbSNP: rs140119177
rs140119177
FAM120AOS
A 0.700 GeneticVariation CLINVAR

dbSNP: rs143044921
rs143044921
FREM2
A 0.700 SusceptibilityMutation CLINVAR