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rs121908451

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908451(C;C)
Make rs121908451(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position108929295
GeneEDAR
is asnp
is mentioned by
dbSNPrs121908451
ebirs121908451
HLIrs121908451
Exacrs121908451
Varsomers121908451
Maprs121908451
PheGenIrs121908451
hapmaprs121908451
1000 genomesrs121908451
hgdprs121908451
ensemblrs121908451
gopubmedrs121908451
geneviewrs121908451
scholarrs121908451
googlers121908451
pharmgkbrs121908451
gwascentralrs121908451
openSNPrs121908451
23andMers121908451
23andMe allrs121908451
SNP Nexus

SNPshotrs121908451
SNPdbers121908451
MSV3drs121908451
GWAS Ctlgrs121908451
Max Magnitude0
OMIM604095
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908451(C;C)
Alt rs121908451(C;C)
Reference rs121908451(T;T)
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.109545751A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006209.3,