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rs140926412

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs140926412(A;A)
Make rs140926412(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position7690177
GeneGDF3
is asnp
is mentioned by
dbSNPrs140926412
dbSNP (old)rs140926412
ClinGenrs140926412
ebirs140926412
HLIrs140926412
Exacrs140926412
Gnomadrs140926412
Varsomers140926412
Maprs140926412
PheGenIrs140926412
Biobankrs140926412
1000 genomesrs140926412
hgdprs140926412
ensemblrs140926412
gopubmedrs140926412
geneviewrs140926412
scholarrs140926412
googlers140926412
pharmgkbrs140926412
gwascentralrs140926412
openSNPrs140926412
23andMers140926412
23andMe allrs140926412
SNP Nexus

SNPshotrs140926412
SNPdbers140926412
MSV3drs140926412
GWAS Ctlgrs140926412
GMAF0.0009183
Max Magnitude0
ClinVar
Risk rs140926412(A;A) rs140926412(T;T)
Alt rs140926412(A;A) rs140926412(T;T)
Reference Rs140926412(G;G)
Significance Pathogenic
Disease Klippel-Feil syndrome 3 Microphthalmia Hemivertebrae Missing ribs Scoliosis Supernumerary ribs
Variation info
Gene GDF3
CLNDBN Klippel-Feil syndrome 3, autosomal dominant Microphthalmia, isolated, with coloboma 6 Hemivertebrae Missing ribs Scoliosis Supernumerary ribs
Reversed 0
HGVS NC_000012.11:g.7842773G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023555.2, RCV000023556.2, RCV000414875.1,