Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879253818
rs879253818
Entrez Id: 134218
Gene Symbol: DNAJC21
DNAJC21
CUI: C4310744
Disease:
BONE MARROW FAILURE SYNDROME 3
0.800 GeneticVariation UNIPROT DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation. 27346687 2016
dbSNP: rs879253818
rs879253818
Entrez Id: 134218
Gene Symbol: DNAJC21
DNAJC21
CUI: C4310744
Disease:
BONE MARROW FAILURE SYNDROME 3
G 0.800 CausalMutation CLINVAR
dbSNP: rs150576702
rs150576702
Entrez Id: 134218
Gene Symbol: DNAJC21
DNAJC21
CUI: C2986691
Disease:
Inherited bone marrow failure syndrome
T 0.700 CausalMutation CLINVAR DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation. 27346687 2016
dbSNP: rs770282904
rs770282904
Entrez Id: 134218
Gene Symbol: DNAJC21
DNAJC21
CUI: C2986691
Disease:
Inherited bone marrow failure syndrome
T 0.700 CausalMutation CLINVAR DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation. 27346687 2016
dbSNP: rs879253818
rs879253818
Entrez Id: 134218
Gene Symbol: DNAJC21
DNAJC21
CUI: C2986691
Disease:
Inherited bone marrow failure syndrome
G 0.700 CausalMutation CLINVAR DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation. 27346687 2016
dbSNP: rs150576702
rs150576702
Entrez Id: 134218
Gene Symbol: DNAJC21
DNAJC21
CUI: C4310744
Disease:
BONE MARROW FAILURE SYNDROME 3
T 0.700 CausalMutation CLINVAR
dbSNP: rs1561180439
rs1561180439
Entrez Id: 134218
Gene Symbol: DNAJC21
DNAJC21
CUI: C4310744
Disease:
BONE MARROW FAILURE SYNDROME 3
G 0.700 CausalMutation CLINVAR
dbSNP: rs1561183139
rs1561183139
Entrez Id: 134218
Gene Symbol: DNAJC21
DNAJC21
CUI: C4310744
Disease:
BONE MARROW FAILURE SYNDROME 3
T 0.700 CausalMutation CLINVAR
dbSNP: rs368148362
rs368148362
Entrez Id: 134218
Gene Symbol: DNAJC21
DNAJC21
CUI: C4310744
Disease:
BONE MARROW FAILURE SYNDROME 3
T 0.700 CausalMutation CLINVAR
dbSNP: rs770282904
rs770282904
Entrez Id: 134218
Gene Symbol: DNAJC21
DNAJC21
CUI: C4310744
Disease:
BONE MARROW FAILURE SYNDROME 3
T 0.700 CausalMutation CLINVAR
dbSNP: rs771063992
rs771063992
Entrez Id: 134218
Gene Symbol: DNAJC21
DNAJC21
CUI: C0878638
Disease:
Abnormality of the tongue
T 0.700 CausalMutation CLINVAR
dbSNP: rs771063992
rs771063992
Entrez Id: 134218
Gene Symbol: DNAJC21
DNAJC21
CUI: C0030312
Disease:
Pancytopenia
T 0.700 CausalMutation CLINVAR
dbSNP: rs771063992
rs771063992
Entrez Id: 134218
Gene Symbol: DNAJC21
DNAJC21
CUI: C0221217
Disease:
Neck webbing
T 0.700 CausalMutation CLINVAR
dbSNP: rs771063992
rs771063992
Entrez Id: 134218
Gene Symbol: DNAJC21
DNAJC21
CUI: C0349588
Disease:
Short stature
T 0.700 CausalMutation CLINVAR
dbSNP: rs771063992
rs771063992
Entrez Id: 134218
Gene Symbol: DNAJC21
DNAJC21
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
T 0.700 CausalMutation CLINVAR
dbSNP: rs771063992
rs771063992
Entrez Id: 134218
Gene Symbol: DNAJC21
DNAJC21
CUI: C0016842
Disease:
Congenital pectus excavatum
T 0.700 CausalMutation CLINVAR
dbSNP: rs771063992
rs771063992
Entrez Id: 134218
Gene Symbol: DNAJC21
DNAJC21
CUI: C0338656
Disease:
Impaired cognition
T 0.700 CausalMutation CLINVAR