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rs121908116

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908116(G;G)
Make rs121908116(G;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position236482366
GeneEDARADD
is asnp
is mentioned by
dbSNPrs121908116
ebirs121908116
HLIrs121908116
Exacrs121908116
Varsomers121908116
Maprs121908116
PheGenIrs121908116
hapmaprs121908116
1000 genomesrs121908116
hgdprs121908116
ensemblrs121908116
gopubmedrs121908116
geneviewrs121908116
scholarrs121908116
googlers121908116
pharmgkbrs121908116
gwascentralrs121908116
openSNPrs121908116
23andMers121908116
23andMe allrs121908116
SNP Nexus

SNPshotrs121908116
SNPdbers121908116
MSV3drs121908116
GWAS Ctlgrs121908116
Max Magnitude0
OMIM606603
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908116(G;G)
Alt rs121908116(G;G)
Reference rs121908116(T;T)
Significance Pathogenic
Disease Ectodermal dysplasia 11a Autosomal dominant hypohidrotic ectodermal dysplasia
Variation info
Gene EDARADD
CLNDBN Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant Autosomal dominant hypohidrotic ectodermal dysplasia
Reversed 0
HGVS NC_000001.10:g.236645666T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004408.3, RCV000055985.1,