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rs113994158

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs113994158(-;-)
Make rs113994158(-;ACCG)
Make rs113994158(ACCG;ACCG)
ReferenceGRCh38 38.1/141
Chromosome15
Position89776860
GeneMESP2
is asnp
is mentioned by
dbSNPrs113994158
ebirs113994158
HLIrs113994158
Exacrs113994158
Varsomers113994158
Maprs113994158
PheGenIrs113994158
hapmaprs113994158
1000 genomesrs113994158
hgdprs113994158
ensemblrs113994158
gopubmedrs113994158
geneviewrs113994158
scholarrs113994158
googlers113994158
pharmgkbrs113994158
gwascentralrs113994158
openSNPrs113994158
23andMers113994158
23andMe allrs113994158
SNP Nexus

SNPshotrs113994158
SNPdbers113994158
MSV3drs113994158
GWAS Ctlgrs113994158
Max Magnitude0
OMIM605195
Desc
Variant0001
Relatedalso
ClinVar
Risk rs113994158(CCGA;CCGA)
Alt rs113994158(CCGA;CCGA)
Reference rs113994158(;)
Significance Pathogenic
Disease Spondylocostal dysostosis 2
Variation info
Gene MESP2
CLNDBN Spondylocostal dysostosis 2
Reversed 0
HGVS NC_000015.9:g.90320088_90320091dupACCG
CLNSRC OMIM Allelic Variant
CLNACC RCV000005492.4,