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rs587777509

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777509(A;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position25244564
GeneDNMT3A
is asnp
is mentioned by
dbSNPrs587777509
dbSNP (classic)rs587777509
ClinGenrs587777509
ebirs587777509
HLIrs587777509
Exacrs587777509
Gnomadrs587777509
Varsomers587777509
LitVarrs587777509
Maprs587777509
PheGenIrs587777509
Biobankrs587777509
1000 genomesrs587777509
hgdprs587777509
ensemblrs587777509
geneviewrs587777509
scholarrs587777509
googlers587777509
pharmgkbrs587777509
gwascentralrs587777509
openSNPrs587777509
23andMers587777509
SNPshotrs587777509
SNPdbers587777509
MSV3drs587777509
GWAS Ctlgrs587777509
Max Magnitude0
ClinVar
Risk Rs587777509(A;A)
Alt Rs587777509(A;A)
Reference Rs587777509(T;T)
Significance Pathogenic
Disease Tatton-Brown-rahman syndrome
Variation info
Gene DNMT3A
CLNDBN Tatton-Brown-rahman syndrome
Reversed 1
HGVS NC_000002.11:g.25467433A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000128561.2,