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rs641615

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs641615(A;A)
Make rs641615(A;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position52519125
GeneKRT5
is asnp
is mentioned by
dbSNPrs641615
ebirs641615
HLIrs641615
Exacrs641615
Varsomers641615
Maprs641615
PheGenIrs641615
hapmaprs641615
1000 genomesrs641615
hgdprs641615
ensemblrs641615
gopubmedrs641615
geneviewrs641615
scholarrs641615
googlers641615
pharmgkbrs641615
gwascentralrs641615
openSNPrs641615
23andMers641615
23andMe allrs641615
SNP Nexus

SNPshotrs641615
SNPdbers641615
MSV3drs641615
GWAS Ctlgrs641615
GMAF0.253
Max Magnitude0
? (A;A) (A;C) (C;C) 28
Venter snp
Source plos
Gene KRT5
allele T
frequency
sift
HuRef 1103649442596
Disease Association Defects in KRT5 are the cause of epidermolysis bullosa simplex with mottled pigmentation (MP-EBS) (MIM:131960). MP-EBS is characterized by additional reticular hyperpigmentation.



Neighborrs11170164
Distance759
ClinVar
Risk rs641615(A;A)
Alt rs641615(A;A)
Reference rs641615(C;C)
Significance Untested
Disease not provided
Variation info
Gene KRT5
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.52912909G>T
CLNSRC ClinVar Epithelial Biology
CLNACC RCV000056634.1,


GET Evidence
KRT5-D197E
aa_change Asp197Glu
aa_change_short D197E
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0749767
summary