rs786204847

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs786204847(A;C)

Make rs786204847(C;C)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

32488039

Gene

DDX58

is a	snp
is	mentioned by
dbSNP	rs786204847
dbSNP (classic)	rs786204847
ClinGen	rs786204847
ebi	rs786204847
HLI	rs786204847
Exac	rs786204847
Gnomad	rs786204847
Varsome	rs786204847
LitVar	rs786204847
Map	rs786204847
PheGenI	rs786204847
Biobank	rs786204847
1000 genomes	rs786204847
hgdp	rs786204847
ensembl	rs786204847
geneview	rs786204847
scholar	rs786204847
google	rs786204847
pharmgkb	rs786204847
gwascentral	rs786204847
openSNP	rs786204847
23andMe	rs786204847
SNPshot	rs786204847
SNPdbe	rs786204847
MSV3d	rs786204847
GWAS Ctlg	rs786204847

Max Magnitude

0

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 UniProtKB (protein)
CLNACC	RCV000169760.3,