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rs797044436

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAGA;AAGA) 0 common in clinvar
Make rs797044436(-;-)
Make rs797044436(-;AAGA)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position108910784
GeneEDAR, RANBP2
is asnp
is mentioned by
dbSNPrs797044436
dbSNP (old)rs797044436
ClinGenrs797044436
ebirs797044436
HLIrs797044436
Exacrs797044436
Gnomadrs797044436
Varsomers797044436
Maprs797044436
PheGenIrs797044436
Biobankrs797044436
1000 genomesrs797044436
hgdprs797044436
ensemblrs797044436
gopubmedrs797044436
geneviewrs797044436
scholarrs797044436
googlers797044436
pharmgkbrs797044436
gwascentralrs797044436
openSNPrs797044436
23andMers797044436
23andMe allrs797044436
SNP Nexus

SNPshotrs797044436
SNPdbers797044436
MSV3drs797044436
GWAS Ctlgrs797044436
Max Magnitude0
ClinVar
Risk rs797044436(-;-)
Alt rs797044436(-;-)
Reference Rs797044436(AAGA;AAGA)
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.109527240_109527243delTCTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000006217.3,