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rs587777506

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(CCA;CCA) 0 common in clinvar
(TGG;TGG) 0 common in clinvar
Make rs587777506(-;-)
Make rs587777506(-;CCA)
ReferenceGRCh38 38.1/142
Chromosome2
Position25247714
GeneDNMT3A
is asnp
is mentioned by
dbSNPrs587777506
dbSNP (classic)rs587777506
ClinGenrs587777506
ebirs587777506
HLIrs587777506
Exacrs587777506
Gnomadrs587777506
Varsomers587777506
LitVarrs587777506
Maprs587777506
PheGenIrs587777506
Biobankrs587777506
1000 genomesrs587777506
hgdprs587777506
ensemblrs587777506
geneviewrs587777506
scholarrs587777506
googlers587777506
pharmgkbrs587777506
gwascentralrs587777506
openSNPrs587777506
23andMers587777506
SNPshotrs587777506
SNPdbers587777506
MSV3drs587777506
GWAS Ctlgrs587777506
Max Magnitude0
ClinVar
Risk Rs587777506(CCA;CCA) rs587777506(-;-)
Alt Rs587777506(CCA;CCA) rs587777506(-;-)
Reference Rs587777506(TGG;TGG)
Significance Pathogenic
Disease Tatton-Brown-rahman syndrome
Variation info
Gene DNMT3A
CLNDBN Tatton-Brown-rahman syndrome
Reversed 1
HGVS NC_000002.11:g.25470583_25470585delCCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000128558.2,