rs869312741

Orientation

minus

Stabilized

minus

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

Make rs869312741(-;-)

Make rs869312741(-;CC)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

43747509

Gene

SMG9

is a	snp
is	mentioned by
dbSNP	rs869312741
dbSNP (classic)	rs869312741
ClinGen	rs869312741
ebi	rs869312741
HLI	rs869312741
Exac	rs869312741
Gnomad	rs869312741
Varsome	rs869312741
LitVar	rs869312741
Map	rs869312741
PheGenI	rs869312741
Biobank	rs869312741
1000 genomes	rs869312741
hgdp	rs869312741
ensembl	rs869312741
geneview	rs869312741
scholar	rs869312741
google	rs869312741
pharmgkb	rs869312741
gwascentral	rs869312741
openSNP	rs869312741
23andMe	rs869312741
SNPshot	rs869312741
SNPdbe	rs869312741
MSV3d	rs869312741
GWAS Ctlg	rs869312741

Max Magnitude

0

ClinVar
Risk	rs869312741(-;-)
Alt	rs869312741(-;-)
Reference	Rs869312741(CC;CC)
Significance	Pathogenic
Disease	Abnormal facial shape Abnormality of cardiovascular system morphology Brainstem dysplasia Global developmental delay Heart and brain malformation syndrome
Variation	info
Gene	SMG9
CLNDBN	Abnormal facial shape Abnormality of cardiovascular system morphology Brainstem dysplasia Global developmental delay Heart and brain malformation syndrome
Reversed	1
HGVS	NC_000019.9:g.44251661_44251662delGG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000210059.1, RCV000210947.1,