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rs1057524917

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057524917(C;C)
Make rs1057524917(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position29125411
GeneKREMEN1
is asnp
is mentioned by
dbSNPrs1057524917
dbSNP (old)rs1057524917
ClinGenrs1057524917
ebirs1057524917
HLIrs1057524917
Exacrs1057524917
Gnomadrs1057524917
Varsomers1057524917
Maprs1057524917
PheGenIrs1057524917
Biobankrs1057524917
1000 genomesrs1057524917
hgdprs1057524917
ensemblrs1057524917
gopubmedrs1057524917
geneviewrs1057524917
scholarrs1057524917
googlers1057524917
pharmgkbrs1057524917
gwascentralrs1057524917
openSNPrs1057524917
23andMers1057524917
23andMe allrs1057524917
SNPshotrs1057524917
SNPdbers1057524917
MSV3drs1057524917
GWAS Ctlgrs1057524917
Max Magnitude0
ClinVar
Risk rs1057524917(C;C)
Alt rs1057524917(C;C)
Reference Rs1057524917(T;T)
Significance Pathogenic
Disease Ectodermal dysplasia 13
Variation info
Gene KREMEN1
CLNDBN Ectodermal dysplasia 13, hair/tooth type
Reversed 0
HGVS NC_000022.10:g.29521399T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000445554.1,