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rs869312742

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs869312742(A;G)
Make rs869312742(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position43744768
GeneSMG9
is asnp
is mentioned by
dbSNPrs869312742
ebirs869312742
HLIrs869312742
Exacrs869312742
Varsomers869312742
Maprs869312742
PheGenIrs869312742
hapmaprs869312742
1000 genomesrs869312742
hgdprs869312742
ensemblrs869312742
gopubmedrs869312742
geneviewrs869312742
scholarrs869312742
googlers869312742
pharmgkbrs869312742
gwascentralrs869312742
openSNPrs869312742
23andMers869312742
23andMe allrs869312742
SNP Nexus

SNPshotrs869312742
SNPdbers869312742
MSV3drs869312742
GWAS Ctlgrs869312742
Max Magnitude0
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,