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rs587777682

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777682(A;A)
Make rs587777682(A;G)
ReferenceGRCh38 38.1/142
Chromosome6
Position32042353
GeneTNXB
is asnp
is mentioned by
dbSNPrs587777682
dbSNP (classic)rs587777682
ClinGenrs587777682
ebirs587777682
HLIrs587777682
Exacrs587777682
Gnomadrs587777682
Varsomers587777682
LitVarrs587777682
Maprs587777682
PheGenIrs587777682
Biobankrs587777682
1000 genomesrs587777682
hgdprs587777682
ensemblrs587777682
geneviewrs587777682
scholarrs587777682
googlers587777682
pharmgkbrs587777682
gwascentralrs587777682
openSNPrs587777682
23andMers587777682
SNPshotrs587777682
SNPdbers587777682
MSV3drs587777682
GWAS Ctlgrs587777682
Max Magnitude0
ClinVar
Risk rs587777682(A;A)
Alt rs587777682(A;A)
Reference Rs587777682(G;G)
Significance Pathogenic
Disease Ehlers-Danlos-like syndrome due to tenascin-X deficiency
Variation info
Gene TNXB
CLNDBN Ehlers-Danlos-like syndrome due to tenascin-X deficiency
Reversed 0
HGVS NC_000006.11:g.32010130G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000133609.3,