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rs260630

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
(T;T) 0 common in clinvar
Make rs260630(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position108910917
GeneEDAR
is asnp
is mentioned by
dbSNPrs260630
ebirs260630
HLIrs260630
Exacrs260630
Varsomers260630
Maprs260630
PheGenIrs260630
hapmaprs260630
1000 genomesrs260630
hgdprs260630
ensemblrs260630
gopubmedrs260630
geneviewrs260630
scholarrs260630
googlers260630
pharmgkbrs260630
gwascentralrs260630
openSNPrs260630
23andMers260630
23andMe allrs260630
SNP Nexus

SNPshotrs260630
SNPdbers260630
MSV3drs260630
GWAS Ctlgrs260630
GMAF0.0652
Max Magnitude0
Venter snp
Source plos
Gene EDAR
allele G
frequency
sift TOLERATED
HuRef 1103658181260
Disease Association Defects in EDAR are a cause of hypohidrotic ectodermal dysplasia (HED) (MIM:129490, 224900); also known as anhidrotic ectodermal dysplasia (EDA). Inheritance can be autosomal dominant or recessive. HED is characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands.



ClinVar
Risk rs260630(C;C)
Alt rs260630(C;C)
Reference rs260630(T;T)
Significance Unknown
Disease not provided
Variation info
Gene EDAR
CLNDBN not provided
Reversed 1
HGVS NC_000002.11:g.109527373A>G
CLNSRC
CLNACC RCV000143984.1,