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rs34187924

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs34187924(A;A)
Make rs34187924(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position52287624
GeneKRT81, KRT86
is asnp
is mentioned by
dbSNPrs34187924
ebirs34187924
HLIrs34187924
Exacrs34187924
Varsomers34187924
Maprs34187924
PheGenIrs34187924
hapmaprs34187924
1000 genomesrs34187924
hgdprs34187924
ensemblrs34187924
gopubmedrs34187924
geneviewrs34187924
scholarrs34187924
googlers34187924
pharmgkbrs34187924
gwascentralrs34187924
openSNPrs34187924
23andMers34187924
23andMe allrs34187924
SNP Nexus

SNPshotrs34187924
SNPdbers34187924
MSV3drs34187924
GWAS Ctlgrs34187924
Max Magnitude0
Venter snp
Source plos
Gene KRT81
allele A
frequency
sift AFFECT FUNCTION
HuRef 1103649442058
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.


Neighborrs6580873
Distance517