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

rs71647808

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs71647808(G;T)
Make rs71647808(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position89776664
GeneMESP2
is asnp
is mentioned by
dbSNPrs71647808
dbSNP (classic)rs71647808
ClinGenrs71647808
ebirs71647808
HLIrs71647808
Exacrs71647808
Gnomadrs71647808
Varsomers71647808
LitVarrs71647808
Maprs71647808
PheGenIrs71647808
Biobankrs71647808
1000 genomesrs71647808
hgdprs71647808
ensemblrs71647808
geneviewrs71647808
scholarrs71647808
googlers71647808
pharmgkbrs71647808
gwascentralrs71647808
openSNPrs71647808
23andMers71647808
SNPshotrs71647808
SNPdbers71647808
MSV3drs71647808
GWAS Ctlgrs71647808
Max Magnitude0
OMIM605195
Desc
Variant0002
Relatedalso


ClinVar
Risk rs71647808(A;A) rs71647808(C;C) rs71647808(T;T)
Alt rs71647808(A;A) rs71647808(C;C) rs71647808(T;T)
Reference Rs71647808(G;G)
Significance Pathogenic
Disease Spondylocostal dysostosis 2
Variation info
Gene MESP2
CLNDBN Spondylocostal dysostosis 2
Reversed 0
HGVS NC_000015.9:g.90319895G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005493.6,