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rs74315309

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315309(A;A)
Make rs74315309(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position236482455
GeneEDARADD
is asnp
is mentioned by
dbSNPrs74315309
ebirs74315309
HLIrs74315309
Exacrs74315309
Varsomers74315309
Maprs74315309
PheGenIrs74315309
hapmaprs74315309
1000 genomesrs74315309
hgdprs74315309
ensemblrs74315309
gopubmedrs74315309
geneviewrs74315309
scholarrs74315309
googlers74315309
pharmgkbrs74315309
gwascentralrs74315309
openSNPrs74315309
23andMers74315309
23andMe allrs74315309
SNP Nexus

SNPshotrs74315309
SNPdbers74315309
MSV3drs74315309
GWAS Ctlgrs74315309
Max Magnitude0
OMIM606603
Desc
Variant0001
Relatedalso
ClinVar
Risk rs74315309(A;A)
Alt rs74315309(A;A)
Reference rs74315309(G;G)
Significance Pathogenic
Disease Ectodermal dysplasia 11b Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Variation info
Gene EDARADD
CLNDBN Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Reversed 0
HGVS NC_000001.10:g.236645755G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004407.2, RCV000055987.1,