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rs786204848

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204848(G;T)
Make rs786204848(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position32488884
GeneDDX58
is asnp
is mentioned by
dbSNPrs786204848
ebirs786204848
HLIrs786204848
Exacrs786204848
Varsomers786204848
Maprs786204848
PheGenIrs786204848
hapmaprs786204848
1000 genomesrs786204848
hgdprs786204848
ensemblrs786204848
gopubmedrs786204848
geneviewrs786204848
scholarrs786204848
googlers786204848
pharmgkbrs786204848
gwascentralrs786204848
openSNPrs786204848
23andMers786204848
23andMe allrs786204848
SNP Nexus

SNPshotrs786204848
SNPdbers786204848
MSV3drs786204848
GWAS Ctlgrs786204848
Max Magnitude0
ClinVar
Risk rs786204848(T;T)
Alt rs786204848(T;T)
Reference rs786204848(G;G)
Significance Pathogenic
Disease Singleton-Merten syndrome 2
Variation info
Gene DDX58
CLNDBN Singleton-Merten syndrome 2
Reversed 1
HGVS NC_000009.11:g.32488882C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000169761.3,