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rs764070148

From SNPedia

Orientationplus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs764070148(-;-)
Make rs764070148(-;TT)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position32084567
GeneTNXB
is asnp
is mentioned by
dbSNPrs764070148
ebirs764070148
HLIrs764070148
Exacrs764070148
Varsomers764070148
Maprs764070148
PheGenIrs764070148
hapmaprs764070148
1000 genomesrs764070148
hgdprs764070148
ensemblrs764070148
gopubmedrs764070148
geneviewrs764070148
scholarrs764070148
googlers764070148
pharmgkbrs764070148
gwascentralrs764070148
openSNPrs764070148
23andMers764070148
23andMe allrs764070148
SNP Nexus

SNPshotrs764070148
SNPdbers764070148
MSV3drs764070148
GWAS Ctlgrs764070148
Max Magnitude0
ClinVar
Risk rs764070148(;)
Alt rs764070148(;)
Reference rs764070148(TT;TT)
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.32052344_32052345delTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000009080.4,