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rs121908450

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908450(A;A)
Make rs121908450(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position108929288
GeneEDAR
is asnp
is mentioned by
dbSNPrs121908450
ebirs121908450
HLIrs121908450
Exacrs121908450
Varsomers121908450
Maprs121908450
PheGenIrs121908450
hapmaprs121908450
1000 genomesrs121908450
hgdprs121908450
ensemblrs121908450
gopubmedrs121908450
geneviewrs121908450
scholarrs121908450
googlers121908450
pharmgkbrs121908450
gwascentralrs121908450
openSNPrs121908450
23andMers121908450
23andMe allrs121908450
SNP Nexus

SNPshotrs121908450
SNPdbers121908450
MSV3drs121908450
GWAS Ctlgrs121908450
Max Magnitude0
OMIM604095
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908450(A;A)
Alt rs121908450(A;A)
Reference rs121908450(G;G)
Significance Pathogenic
Disease Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Ectodermal dysplasia 10a
Variation info
Gene EDAR
CLNDBN Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant
Reversed 1
HGVS NC_000002.11:g.109545744C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006206.5, RCV000032598.5,