POF1B, POF1B actin binding protein, 79983

N. diseases: 17; N. variants: 1
Disease: Premature Ovarian Failure 2b ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75398746
rs75398746
Entrez Id: 79983
Gene Symbol: POF1B
POF1B
CUI: C1845105
Disease:
Premature Ovarian Failure 2b 		T 0.800 GeneticVariation CLINVAR Premature ovarian failure caused by a heterozygous missense mutation in POF1B and a reciprocal translocation 46,X,t(X;3)(q21.1;q21.3). 25676666 2015
dbSNP: rs75398746
rs75398746
Entrez Id: 79983
Gene Symbol: POF1B
POF1B
CUI: C1845105
Disease:
Premature Ovarian Failure 2b 		0.800 GeneticVariation UNIPROT The POF1B candidate gene for premature ovarian failure regulates epithelial polarity. 21940798 2011
dbSNP: rs75398746
rs75398746
Entrez Id: 79983
Gene Symbol: POF1B
POF1B
CUI: C1845105
Disease:
Premature Ovarian Failure 2b 		T 0.800 GeneticVariation CLINVAR The POF1B candidate gene for premature ovarian failure regulates epithelial polarity. 21940798 2011
dbSNP: rs75398746
rs75398746
Entrez Id: 79983
Gene Symbol: POF1B
POF1B
CUI: C1845105
Disease:
Premature Ovarian Failure 2b 		T 0.800 GeneticVariation CLINVAR Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure. 16773570 2006
dbSNP: rs75398746
rs75398746
Entrez Id: 79983
Gene Symbol: POF1B
POF1B
CUI: C1845105
Disease:
Premature Ovarian Failure 2b 		0.800 GeneticVariation UNIPROT Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure. 16773570 2006
dbSNP: rs75398746
rs75398746
Entrez Id: 79983
Gene Symbol: POF1B
POF1B
CUI: C1845105
Disease:
Premature Ovarian Failure 2b 		T 0.800 GeneticVariation CLINVAR Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B. 15459172 2004