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rs1057519565

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519565(A;A)
Make rs1057519565(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position687941
GeneDEAF1
is asnp
is mentioned by
dbSNPrs1057519565
dbSNP (old)rs1057519565
ClinGenrs1057519565
ebirs1057519565
HLIrs1057519565
Exacrs1057519565
Gnomadrs1057519565
Varsomers1057519565
LitVarrs1057519565
Maprs1057519565
PheGenIrs1057519565
Biobankrs1057519565
1000 genomesrs1057519565
hgdprs1057519565
ensemblrs1057519565
gopubmedrs1057519565
geneviewrs1057519565
scholarrs1057519565
googlers1057519565
pharmgkbrs1057519565
gwascentralrs1057519565
openSNPrs1057519565
23andMers1057519565
23andMe allrs1057519565
SNPshotrs1057519565
SNPdbers1057519565
MSV3drs1057519565
GWAS Ctlgrs1057519565
Max Magnitude0
ClinVar
Risk rs1057519565(A;A)
Alt rs1057519565(A;A)
Reference Rs1057519565(G;G)
Significance Pathogenic
Disease Mental retardation not provided
Variation info
Gene DEAF1
CLNDBN Mental retardation, autosomal dominant 24 not provided
Reversed 1
HGVS NC_000011.9:g.687941C>T
CLNSRC
CLNACC RCV000417021.1, RCV000493974.1,