KATNB1, katanin regulatory subunit B1, 10300

N. diseases: 42; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730880257
rs730880257
Entrez Id: 10300
Gene Symbol: KATNB1
KATNB1
CUI: C4015525
Disease:
LISSENCEPHALY 6 WITH MICROCEPHALY 		0.800 GeneticVariation UNIPROT
dbSNP: rs730880257
rs730880257
Entrez Id: 10300
Gene Symbol: KATNB1
KATNB1
CUI: C4015525
Disease:
LISSENCEPHALY 6 WITH MICROCEPHALY 		T 0.800 CausalMutation CLINVAR
dbSNP: rs730880258
rs730880258
Entrez Id: 10300
Gene Symbol: KATNB1
KATNB1
CUI: C4015525
Disease:
LISSENCEPHALY 6 WITH MICROCEPHALY 		0.800 GeneticVariation UNIPROT
dbSNP: rs730880258
rs730880258
Entrez Id: 10300
Gene Symbol: KATNB1
KATNB1
CUI: C4015525
Disease:
LISSENCEPHALY 6 WITH MICROCEPHALY 		G 0.800 CausalMutation CLINVAR
dbSNP: rs730880259
rs730880259
Entrez Id: 10300
Gene Symbol: KATNB1
KATNB1
CUI: C4015525
Disease:
LISSENCEPHALY 6 WITH MICROCEPHALY 		T 0.800 CausalMutation CLINVAR
dbSNP: rs730880259
rs730880259
Entrez Id: 10300
Gene Symbol: KATNB1
KATNB1
CUI: C4015525
Disease:
LISSENCEPHALY 6 WITH MICROCEPHALY 		0.800 GeneticVariation UNIPROT
dbSNP: rs879255517
rs879255517
Entrez Id: 10300
Gene Symbol: KATNB1
KATNB1
CUI: C4015525
Disease:
LISSENCEPHALY 6 WITH MICROCEPHALY 		G 0.700 CausalMutation CLINVAR
dbSNP: rs879255518
rs879255518
Entrez Id: 10300;107984852
Gene Symbol: KATNB1;LOC107984852
KATNB1;LOC107984852
CUI: C4015525
Disease:
LISSENCEPHALY 6 WITH MICROCEPHALY 		G 0.700 CausalMutation CLINVAR
dbSNP: rs879255519
rs879255519
Entrez Id: 10300
Gene Symbol: KATNB1
KATNB1
CUI: C4015525
Disease:
LISSENCEPHALY 6 WITH MICROCEPHALY 		A 0.700 CausalMutation CLINVAR