Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909129
rs121909129
KRT86
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.810 GeneticVariation UNIPROT Novel KRT83 and KRT86 mutations associated with monilethrix. 25557232

2015
dbSNP: rs121909129
rs121909129
KRT86
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.810 GeneticVariation UNIPROT Monilethrix: a novel mutation (Glu402Lys) in the helix termination motif and the first causative mutation (Asn114Asp) in the helix initiation motif of the type II hair keratin hHb6. 10469314

1999
dbSNP: rs121909129
rs121909129
KRT86
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.810 GeneticVariation UNIPROT Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix. 10594761

1999
dbSNP: rs121909129
rs121909129
KRT86
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.810 GeneticVariation UNIPROT Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype. 10504448

1999
dbSNP: rs121909129
rs121909129
KRT86
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.810 GeneticVariation UNIPROT A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix. 9402962

1997