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rs786204847

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786204847(A;C)
Make rs786204847(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position32488039
GeneDDX58
is asnp
is mentioned by
dbSNPrs786204847
ebirs786204847
HLIrs786204847
Exacrs786204847
Varsomers786204847
Maprs786204847
PheGenIrs786204847
hapmaprs786204847
1000 genomesrs786204847
hgdprs786204847
ensemblrs786204847
gopubmedrs786204847
geneviewrs786204847
scholarrs786204847
googlers786204847
pharmgkbrs786204847
gwascentralrs786204847
openSNPrs786204847
23andMers786204847
23andMe allrs786204847
SNP Nexus

SNPshotrs786204847
SNPdbers786204847
MSV3drs786204847
GWAS Ctlgrs786204847
Max Magnitude0
ClinVar
Risk rs786204847(C;C)
Alt rs786204847(C;C)
Reference rs786204847(A;A)
Significance Pathogenic
Disease Singleton-Merten syndrome 2
Variation info
Gene DDX58
CLNDBN Singleton-Merten syndrome 2
Reversed 1
HGVS NC_000009.11:g.32488037T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000169760.3,