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rs587777067

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587777067(A;C)
Make rs587777067(C;C)
ReferenceGRCh38 38.1/142
Chromosome1
Position200650639
GeneDDX59
is asnp
is mentioned by
dbSNPrs587777067
dbSNP (classic)rs587777067
ClinGenrs587777067
ebirs587777067
HLIrs587777067
Exacrs587777067
Gnomadrs587777067
Varsomers587777067
LitVarrs587777067
Maprs587777067
PheGenIrs587777067
Biobankrs587777067
1000 genomesrs587777067
hgdprs587777067
ensemblrs587777067
geneviewrs587777067
scholarrs587777067
googlers587777067
pharmgkbrs587777067
gwascentralrs587777067
openSNPrs587777067
23andMers587777067
SNPshotrs587777067
SNPdbers587777067
MSV3drs587777067
GWAS Ctlgrs587777067
Max Magnitude0
ClinVar
Risk rs587777067(C;C) rs587777067(T;T)
Alt rs587777067(C;C) rs587777067(T;T)
Reference Rs587777067(A;A)
Significance Pathogenic
Disease Orofaciodigital syndrome 5 not provided
Variation info
Gene DDX59
CLNDBN Orofaciodigital syndrome 5 not provided
Reversed 0
HGVS NC_000001.10:g.200619767A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000074347.2, RCV000433647.1,