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rs587776815

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587776815(C;C)
Make rs587776815(C;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position40819163
GeneKRT10, TMEM99
is asnp
is mentioned by
dbSNPrs587776815
dbSNP (classic)rs587776815
ClinGenrs587776815
ebirs587776815
HLIrs587776815
Exacrs587776815
Gnomadrs587776815
Varsomers587776815
LitVarrs587776815
Maprs587776815
PheGenIrs587776815
Biobankrs587776815
1000 genomesrs587776815
hgdprs587776815
ensemblrs587776815
geneviewrs587776815
scholarrs587776815
googlers587776815
pharmgkbrs587776815
gwascentralrs587776815
openSNPrs587776815
23andMers587776815
SNPshotrs587776815
SNPdbers587776815
MSV3drs587776815
GWAS Ctlgrs587776815
Max Magnitude0
ClinVar
Risk rs587776815(C;C) Rs587776815(T;T)
Alt rs587776815(C;C) Rs587776815(T;T)
Reference Rs587776815(A;A)
Significance Pathogenic
Disease Erythroderma
Variation info
Gene KRT10 TMEM99
CLNDBN Erythroderma, ichthyosiform, congenital reticular
Reversed 1
HGVS NC_000017.10:g.38975415T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015682.26,