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rs587777508

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777508(A;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position25247676
GeneDNMT3A
is asnp
is mentioned by
dbSNPrs587777508
dbSNP (classic)rs587777508
ClinGenrs587777508
ebirs587777508
HLIrs587777508
Exacrs587777508
Gnomadrs587777508
Varsomers587777508
LitVarrs587777508
Maprs587777508
PheGenIrs587777508
Biobankrs587777508
1000 genomesrs587777508
hgdprs587777508
ensemblrs587777508
geneviewrs587777508
scholarrs587777508
googlers587777508
pharmgkbrs587777508
gwascentralrs587777508
openSNPrs587777508
23andMers587777508
SNPshotrs587777508
SNPdbers587777508
MSV3drs587777508
GWAS Ctlgrs587777508
Max Magnitude0
ClinVar
Risk Rs587777508(A;A)
Alt Rs587777508(A;A)
Reference Rs587777508(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.25470545A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000128560.2,