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rs797044437

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797044437(A;A)
Make rs797044437(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position108910459
GeneEDAR, RANBP2
is asnp
is mentioned by
dbSNPrs797044437
dbSNP (classic)rs797044437
ClinGenrs797044437
ebirs797044437
HLIrs797044437
Exacrs797044437
Gnomadrs797044437
Varsomers797044437
LitVarrs797044437
Maprs797044437
PheGenIrs797044437
Biobankrs797044437
1000 genomesrs797044437
hgdprs797044437
ensemblrs797044437
geneviewrs797044437
scholarrs797044437
googlers797044437
pharmgkbrs797044437
gwascentralrs797044437
openSNPrs797044437
23andMers797044437
SNPshotrs797044437
SNPdbers797044437
MSV3drs797044437
GWAS Ctlgrs797044437
Max Magnitude0
ClinVar
Risk rs797044437(A;A)
Alt rs797044437(A;A)
Reference Rs797044437(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.109526915C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006218.4,