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rs121908455

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908455(A;C)
Make rs121908455(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position108929225
GeneEDAR
is asnp
is mentioned by
dbSNPrs121908455
ebirs121908455
HLIrs121908455
Exacrs121908455
Varsomers121908455
Maprs121908455
PheGenIrs121908455
hapmaprs121908455
1000 genomesrs121908455
hgdprs121908455
ensemblrs121908455
gopubmedrs121908455
geneviewrs121908455
scholarrs121908455
googlers121908455
pharmgkbrs121908455
gwascentralrs121908455
openSNPrs121908455
23andMers121908455
23andMe allrs121908455
SNP Nexus

SNPshotrs121908455
SNPdbers121908455
MSV3drs121908455
GWAS Ctlgrs121908455
Max Magnitude0
OMIM604095
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121908455(C;C)
Alt rs121908455(C;C)
Reference rs121908455(A;A)
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.109545681T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006214.4,