Have questions? Visit https://www.reddit.com/r/SNPedia

rs869312741

From SNPedia

Orientationminus
Geno Mag Summary
(CC;CC) 0 common in clinvar
Make rs869312741(-;-)
Make rs869312741(-;CC)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position43747509
GeneSMG9
is asnp
is mentioned by
dbSNPrs869312741
ebirs869312741
HLIrs869312741
Exacrs869312741
Varsomers869312741
Maprs869312741
PheGenIrs869312741
hapmaprs869312741
1000 genomesrs869312741
hgdprs869312741
ensemblrs869312741
gopubmedrs869312741
geneviewrs869312741
scholarrs869312741
googlers869312741
pharmgkbrs869312741
gwascentralrs869312741
openSNPrs869312741
23andMers869312741
23andMe allrs869312741
SNP Nexus

SNPshotrs869312741
SNPdbers869312741
MSV3drs869312741
GWAS Ctlgrs869312741
Max Magnitude0
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,