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rs797044435

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797044435(A;A)
Make rs797044435(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position108930963
GeneEDAR, RANBP2
is asnp
is mentioned by
dbSNPrs797044435
dbSNP (classic)rs797044435
ClinGenrs797044435
ebirs797044435
HLIrs797044435
Exacrs797044435
Gnomadrs797044435
Varsomers797044435
LitVarrs797044435
Maprs797044435
PheGenIrs797044435
Biobankrs797044435
1000 genomesrs797044435
hgdprs797044435
ensemblrs797044435
geneviewrs797044435
scholarrs797044435
googlers797044435
pharmgkbrs797044435
gwascentralrs797044435
openSNPrs797044435
23andMers797044435
SNPshotrs797044435
SNPdbers797044435
MSV3drs797044435
GWAS Ctlgrs797044435
Max Magnitude0
ClinVar
Risk rs797044435(A;A)
Alt rs797044435(A;A)
Reference Rs797044435(G;G)
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.109547419C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006212.4,