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rs121912575

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912575(A;A)
Make rs121912575(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position32084536
GeneTNXB
is asnp
is mentioned by
dbSNPrs121912575
ebirs121912575
HLIrs121912575
Exacrs121912575
Varsomers121912575
Maprs121912575
PheGenIrs121912575
hapmaprs121912575
1000 genomesrs121912575
hgdprs121912575
ensemblrs121912575
gopubmedrs121912575
geneviewrs121912575
scholarrs121912575
googlers121912575
pharmgkbrs121912575
gwascentralrs121912575
openSNPrs121912575
23andMers121912575
23andMe allrs121912575
SNP Nexus

SNPshotrs121912575
SNPdbers121912575
MSV3drs121912575
GWAS Ctlgrs121912575
Max Magnitude0
OMIM600985
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121912575(A;A)
Alt rs121912575(A;A)
Reference rs121912575(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 1
HGVS NC_000006.11:g.32052313C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009083.3,