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rs121908456

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908456(G;T)
Make rs121908456(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position108897194
GeneEDAR
is asnp
is mentioned by
dbSNPrs121908456
ebirs121908456
HLIrs121908456
Exacrs121908456
Varsomers121908456
Maprs121908456
PheGenIrs121908456
hapmaprs121908456
1000 genomesrs121908456
hgdprs121908456
ensemblrs121908456
gopubmedrs121908456
geneviewrs121908456
scholarrs121908456
googlers121908456
pharmgkbrs121908456
gwascentralrs121908456
openSNPrs121908456
23andMers121908456
23andMe allrs121908456
SNP Nexus

SNPshotrs121908456
SNPdbers121908456
MSV3drs121908456
GWAS Ctlgrs121908456
Max Magnitude0
OMIM604095
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121908456(T;T)
Alt rs121908456(T;T)
Reference rs121908456(G;G)
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.109513650C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006215.4,