rs869312742

Orientation

minus

Stabilized

minus

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

Make rs869312742(A;G)

Make rs869312742(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

43744768

Gene

SMG9

is a	snp
is	mentioned by
dbSNP	rs869312742
dbSNP (classic)	rs869312742
ClinGen	rs869312742
ebi	rs869312742
HLI	rs869312742
Exac	rs869312742
Gnomad	rs869312742
Varsome	rs869312742
LitVar	rs869312742
Map	rs869312742
PheGenI	rs869312742
Biobank	rs869312742
1000 genomes	rs869312742
hgdp	rs869312742
ensembl	rs869312742
geneview	rs869312742
scholar	rs869312742
google	rs869312742
pharmgkb	rs869312742
gwascentral	rs869312742
openSNP	rs869312742
23andMe	rs869312742
SNPshot	rs869312742
SNPdbe	rs869312742
MSV3d	rs869312742
GWAS Ctlg	rs869312742

Max Magnitude

0

ClinVar
Risk	rs869312742(G;G)
Alt	rs869312742(G;G)
Reference	Rs869312742(A;A)
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.44248920T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000210060.1, RCV000210951.1,