KIF14, kinesin family member 14, 9928

N. diseases: 103; N. variants: 10
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553259528
rs1553259528
Entrez Id: 9928
Gene Symbol: KIF14
KIF14
CUI: C4693572
Disease:
MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Biallelic variants in KIF14 cause intellectual disability with microcephaly. 29343805 2018
dbSNP: rs1553259528
rs1553259528
Entrez Id: 9928
Gene Symbol: KIF14
KIF14
CUI: C4693572
Disease:
MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Mutations of KIF14 cause primary microcephaly by impairing cytokinesis. 28892560 2017
dbSNP: rs1553259528
rs1553259528
Entrez Id: 9928
Gene Symbol: KIF14
KIF14
CUI: C4693572
Disease:
MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE 		C 0.800 CausalMutation CLINVAR
dbSNP: rs139385693
rs139385693
Entrez Id: 9928
Gene Symbol: KIF14
KIF14
CUI: C4693572
Disease:
MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation UNIPROT Biallelic variants in KIF14 cause intellectual disability with microcephaly. 29343805 2018
dbSNP: rs139385693
rs139385693
Entrez Id: 9928
Gene Symbol: KIF14
KIF14
CUI: C4693572
Disease:
MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation UNIPROT Mutations of KIF14 cause primary microcephaly by impairing cytokinesis. 28892560 2017
dbSNP: rs1553253022
rs1553253022
Entrez Id: 9928
Gene Symbol: KIF14
KIF14
CUI: C4693572
Disease:
MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1553254322
rs1553254322
Entrez Id: 9928
Gene Symbol: KIF14
KIF14
CUI: C4693572
Disease:
MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1553259539
rs1553259539
Entrez Id: 9928
Gene Symbol: KIF14
KIF14
CUI: C4693572
Disease:
MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1553264033
rs1553264033
Entrez Id: 9928
Gene Symbol: KIF14
KIF14
CUI: C4693572
Disease:
MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1553264036
rs1553264036
Entrez Id: 9928
Gene Symbol: KIF14
KIF14
CUI: C4693572
Disease:
MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE 		T 0.700 CausalMutation CLINVAR
dbSNP: rs786201012
rs786201012
Entrez Id: 9928
Gene Symbol: KIF14
KIF14
CUI: C4015701
Disease:
MECKEL SYNDROME 12 		T 0.700 CausalMutation CLINVAR
dbSNP: rs786201013
rs786201013
Entrez Id: 9928
Gene Symbol: KIF14
KIF14
CUI: C4015701
Disease:
MECKEL SYNDROME 12 		A 0.700 CausalMutation CLINVAR
dbSNP: rs981349334
rs981349334
Entrez Id: 9928
Gene Symbol: KIF14
KIF14
CUI: C4693572
Disease:
MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE 		A 0.700 CausalMutation CLINVAR