MYO18B, myosin XVIIIB, 84700

N. diseases: 63; N. variants: 26
Disease: KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1569172839
rs1569172839
Entrez Id: 84700
Gene Symbol: MYO18B
MYO18B
CUI: C4225285
Disease:
KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM 		TG 0.700 GeneticVariation CLINVAR
dbSNP: rs1569308524
rs1569308524
Entrez Id: 84700
Gene Symbol: MYO18B
MYO18B
CUI: C4225285
Disease:
KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs556752387
rs556752387
Entrez Id: 84700
Gene Symbol: MYO18B
MYO18B
CUI: C4225285
Disease:
KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs556752387
rs556752387
Entrez Id: 84700
Gene Symbol: MYO18B
MYO18B
CUI: C4225285
Disease:
KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM 		A 0.700 CausalMutation CLINVAR
dbSNP: rs756408696
rs756408696
Entrez Id: 84700
Gene Symbol: MYO18B
MYO18B
CUI: C4225285
Disease:
KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs869312740
rs869312740
Entrez Id: 84700
Gene Symbol: MYO18B
MYO18B
CUI: C4225285
Disease:
KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM 		T 0.700 CausalMutation CLINVAR