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rs2852464

From SNPedia

Orientationminus
Stabilizedminus
Make rs2852464(C;C)
Make rs2852464(C;G)
Make rs2852464(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position52316937
GeneKRT83
is asnp
is mentioned by
dbSNPrs2852464
ebirs2852464
HLIrs2852464
Exacrs2852464
Varsomers2852464
Maprs2852464
PheGenIrs2852464
hapmaprs2852464
1000 genomesrs2852464
hgdprs2852464
ensemblrs2852464
gopubmedrs2852464
geneviewrs2852464
scholarrs2852464
googlers2852464
pharmgkbrs2852464
gwascentralrs2852464
openSNPrs2852464
23andMers2852464
23andMe allrs2852464
SNP Nexus

SNPshotrs2852464
SNPdbers2852464
MSV3drs2852464
GWAS Ctlgrs2852464
GMAF0.3407
Max Magnitude
? (C;C) (C;G) (G;G) 28
Venter snp
Source plos
Gene KRT83
allele C
frequency
sift AFFECT FUNCTION
HuRef 1103649442133
Disease Association Defects in KRTHB3 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.



GET Evidence
KRT83-I279M
aa_change Ile279Met
aa_change_short I279M
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.409463
summary