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rs398122913

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398122913(A;A)
Make rs398122913(A;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position53939296
GeneHOXC13, HOXC13-AS
is asnp
is mentioned by
dbSNPrs398122913
dbSNP (classic)rs398122913
ClinGenrs398122913
ebirs398122913
HLIrs398122913
Exacrs398122913
Gnomadrs398122913
Varsomers398122913
LitVarrs398122913
Maprs398122913
PheGenIrs398122913
Biobankrs398122913
1000 genomesrs398122913
hgdprs398122913
ensemblrs398122913
geneviewrs398122913
scholarrs398122913
googlers398122913
pharmgkbrs398122913
gwascentralrs398122913
openSNPrs398122913
23andMers398122913
SNPshotrs398122913
SNPdbers398122913
MSV3drs398122913
GWAS Ctlgrs398122913
Max Magnitude0
ClinVar
Risk rs398122913(A;A) rs398122913(T;T)
Alt rs398122913(A;A) rs398122913(T;T)
Reference Rs398122913(C;C)
Significance Pathogenic
Disease Ectodermal dysplasia 9
Variation info
Gene HOXC13-AS HOXC13
CLNDBN Ectodermal dysplasia 9, hair/nail type
Reversed 0
HGVS NC_000012.11:g.54333080C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000033003.25,