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rs6580873

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common on affy axiom data
Make rs6580873(A;A)
Make rs6580873(A;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position52288141
GeneKRT81, KRT86
is asnp
is mentioned by
dbSNPrs6580873
ebirs6580873
HLIrs6580873
Exacrs6580873
Varsomers6580873
Maprs6580873
PheGenIrs6580873
hapmaprs6580873
1000 genomesrs6580873
hgdprs6580873
ensemblrs6580873
gopubmedrs6580873
geneviewrs6580873
scholarrs6580873
googlers6580873
pharmgkbrs6580873
gwascentralrs6580873
openSNPrs6580873
23andMers6580873
23andMe allrs6580873
SNP Nexus

SNPshotrs6580873
SNPdbers6580873
MSV3drs6580873
GWAS Ctlgrs6580873
GMAF0.07897
Max Magnitude0
? (A;A) (A;C) (C;C) 28
Venter snp
Source plos
Gene KRT81
allele C
frequency 0.85
sift TOLERATED
HuRef 1103649442072
Disease Association Defects in KRTHB1 are a cause of Monilethrix (MIM:158000). Monilethrix is an autosomal dominant hair disorder characterized clinically by alopecia and follicular papules. Affected hairs have uniform elliptical nodes of normal thickness and intermittent constrictions, internodes at which the hair easily breaks. Usually only the scalp is involved, but in severe forms, the secondary sexual hair, eyebrows, eyelashes, and nails may also be affected.



Neighborrs34187924
Distance517


GET Evidence
KRT81-L248R
aa_change Leu248Arg
aa_change_short L248R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.874791
summary