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rs587776950

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs587776950(-;A)
Make rs587776950(A;A)
ReferenceGRCh38 38.1/142
Chromosome4
Position182688213
GeneTENM3
is asnp
is mentioned by
dbSNPrs587776950
dbSNP (classic)rs587776950
ClinGenrs587776950
ebirs587776950
HLIrs587776950
Exacrs587776950
Gnomadrs587776950
Varsomers587776950
LitVarrs587776950
Maprs587776950
PheGenIrs587776950
Biobankrs587776950
1000 genomesrs587776950
hgdprs587776950
ensemblrs587776950
geneviewrs587776950
scholarrs587776950
googlers587776950
pharmgkbrs587776950
gwascentralrs587776950
openSNPrs587776950
23andMers587776950
SNPshotrs587776950
SNPdbers587776950
MSV3drs587776950
GWAS Ctlgrs587776950
Max Magnitude0
ClinVar
Risk rs587776950(A;A)
Alt rs587776950(A;A)
Reference Rs587776950(-;-)
Significance Pathogenic
Disease Microphthalmia
Variation info
Gene TENM3
CLNDBN Microphthalmia, isolated, with coloboma 9
Reversed 0
HGVS NC_000004.11:g.183609366dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000034320.6,