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rs201397168

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs201397168(A;A)
Make rs201397168(A;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position32068536
GeneTNXB
is asnp
is mentioned by
dbSNPrs201397168
dbSNP (classic)rs201397168
ClinGenrs201397168
ebirs201397168
HLIrs201397168
Exacrs201397168
Gnomadrs201397168
Varsomers201397168
LitVarrs201397168
Maprs201397168
PheGenIrs201397168
Biobankrs201397168
1000 genomesrs201397168
hgdprs201397168
ensemblrs201397168
geneviewrs201397168
scholarrs201397168
googlers201397168
pharmgkbrs201397168
gwascentralrs201397168
openSNPrs201397168
23andMers201397168
SNPshotrs201397168
SNPdbers201397168
MSV3drs201397168
GWAS Ctlgrs201397168
Max Magnitude0
ClinVar
Risk rs201397168(A;A)
Alt rs201397168(A;A)
Reference Rs201397168(T;T)
Significance Probable-Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene TNXB
CLNDBN Ehlers-Danlos syndrome, type 3
Reversed 0
HGVS NC_000006.11:g.32036313T>A
CLNSRC
CLNACC RCV000199167.1,