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rs786200907

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs786200907(-;GT)
Make rs786200907(GT;GT)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position32095735
GeneTNXB
is asnp
is mentioned by
dbSNPrs786200907
dbSNP (classic)rs786200907
ClinGenrs786200907
ebirs786200907
HLIrs786200907
Exacrs786200907
Gnomadrs786200907
Varsomers786200907
LitVarrs786200907
Maprs786200907
PheGenIrs786200907
Biobankrs786200907
1000 genomesrs786200907
hgdprs786200907
ensemblrs786200907
geneviewrs786200907
scholarrs786200907
googlers786200907
pharmgkbrs786200907
gwascentralrs786200907
openSNPrs786200907
23andMers786200907
SNPshotrs786200907
SNPdbers786200907
MSV3drs786200907
GWAS Ctlgrs786200907
Max Magnitude0
ClinVar
Risk rs786200907(GT;GT)
Alt rs786200907(GT;GT)
Reference Rs786200907(-;-)
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.32063513_32063514dupAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000009082.3,