Have questions? Visit https://www.reddit.com/r/SNPedia

rs121908453

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908453(A;A)
Make rs121908453(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position108896995
GeneEDAR
is asnp
is mentioned by
dbSNPrs121908453
ebirs121908453
HLIrs121908453
Exacrs121908453
Varsomers121908453
Maprs121908453
PheGenIrs121908453
hapmaprs121908453
1000 genomesrs121908453
hgdprs121908453
ensemblrs121908453
gopubmedrs121908453
geneviewrs121908453
scholarrs121908453
googlers121908453
pharmgkbrs121908453
gwascentralrs121908453
openSNPrs121908453
23andMers121908453
23andMe allrs121908453
SNP Nexus

SNPshotrs121908453
SNPdbers121908453
MSV3drs121908453
GWAS Ctlgrs121908453
Max Magnitude0
OMIM604095
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121908453(A;A)
Alt rs121908453(A;A)
Reference rs121908453(G;G)
Significance Pathogenic
Disease Ectodermal dysplasia 10a Autosomal dominant hypohidrotic ectodermal dysplasia
Variation info
Gene EDAR
CLNDBN Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant Autosomal dominant hypohidrotic ectodermal dysplasia
Reversed 1
HGVS NC_000002.11:g.109513451C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006211.5, RCV000174398.1,