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rs121908452

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908452(C;T)
Make rs121908452(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position108897182
GeneEDAR
is asnp
is mentioned by
dbSNPrs121908452
ebirs121908452
HLIrs121908452
Exacrs121908452
Varsomers121908452
Maprs121908452
PheGenIrs121908452
hapmaprs121908452
1000 genomesrs121908452
hgdprs121908452
ensemblrs121908452
gopubmedrs121908452
geneviewrs121908452
scholarrs121908452
googlers121908452
pharmgkbrs121908452
gwascentralrs121908452
openSNPrs121908452
23andMers121908452
23andMe allrs121908452
SNP Nexus

SNPshotrs121908452
SNPdbers121908452
MSV3drs121908452
GWAS Ctlgrs121908452
Max Magnitude0
OMIM604095
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121908452(T;T)
Alt rs121908452(T;T)
Reference rs121908452(C;C)
Significance Pathogenic
Disease Ectodermal dysplasia 10a
Variation info
Gene EDAR
CLNDBN Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant
Reversed 1
HGVS NC_000002.11:g.109513638G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006210.4,