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rs121908454

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908454(A;A)
Make rs121908454(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position108897130
GeneEDAR
is asnp
is mentioned by
dbSNPrs121908454
ebirs121908454
HLIrs121908454
Exacrs121908454
Varsomers121908454
Maprs121908454
PheGenIrs121908454
hapmaprs121908454
1000 genomesrs121908454
hgdprs121908454
ensemblrs121908454
gopubmedrs121908454
geneviewrs121908454
scholarrs121908454
googlers121908454
pharmgkbrs121908454
gwascentralrs121908454
openSNPrs121908454
23andMers121908454
23andMe allrs121908454
SNP Nexus

SNPshotrs121908454
SNPdbers121908454
MSV3drs121908454
GWAS Ctlgrs121908454
Max Magnitude0
OMIM604095
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121908454(A;A)
Alt rs121908454(A;A)
Reference rs121908454(G;G)
Significance Pathogenic
Disease Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Variation info
Gene EDAR
CLNDBN Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Reversed 1
HGVS NC_000002.11:g.109513586C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006213.5,