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rs1060499610

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060499610(-;-)
Make rs1060499610(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position108929270
GeneEDAR, RANBP2
is asnp
is mentioned by
dbSNPrs1060499610
dbSNP (classic)rs1060499610
ClinGenrs1060499610
ebirs1060499610
HLIrs1060499610
Exacrs1060499610
Gnomadrs1060499610
Varsomers1060499610
LitVarrs1060499610
Maprs1060499610
PheGenIrs1060499610
Biobankrs1060499610
1000 genomesrs1060499610
hgdprs1060499610
ensemblrs1060499610
geneviewrs1060499610
scholarrs1060499610
googlers1060499610
pharmgkbrs1060499610
gwascentralrs1060499610
openSNPrs1060499610
23andMers1060499610
SNPshotrs1060499610
SNPdbers1060499610
MSV3drs1060499610
GWAS Ctlgrs1060499610
Max Magnitude0
ClinVar
Risk rs1060499610(-;-)
Alt rs1060499610(-;-)
Reference Rs1060499610(G;G)
Significance Pathogenic
Disease Autosomal dominant hypohidrotic ectodermal dysplasia
Variation info
Gene EDAR
CLNDBN Autosomal dominant hypohidrotic ectodermal dysplasia
Reversed 1
HGVS NC_000002.11:g.109545726delC
CLNSRC
CLNACC RCV000477893.1,