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rs1135809

From SNPedia

Orientationminus
Stabilizedminus
Make rs1135809(A;A)
Make rs1135809(A;C)
Make rs1135809(C;C)
ReferenceGRCh37 37.1/131
Chromosome6
Position31977998
GeneTNXA
is asnp
is mentioned by
dbSNPrs1135809
ebirs1135809
HLIrs1135809
Exacrs1135809
Varsomers1135809
Maprs1135809
PheGenIrs1135809
hapmaprs1135809
1000 genomesrs1135809
hgdprs1135809
ensemblrs1135809
gopubmedrs1135809
geneviewrs1135809
scholarrs1135809
googlers1135809
pharmgkbrs1135809
gwascentralrs1135809
openSNPrs1135809
23andMers1135809
23andMe allrs1135809
SNP Nexus

SNPshotrs1135809
SNPdbers1135809
MSV3drs1135809
GWAS Ctlgrs1135809
Max Magnitude
Venter snp
Source plos
Gene TNXB
allele G
frequency
sift AFFECT FUNCTION
HuRef 1103652827646
Disease Association Defects in TNXB are the cause of Ehlers-Danlos-like syndrome (MIM:606408). This clinically distinct form of Ehlers- Danlos syndrome is characterized by hyperextensible skin, hypermobile joints, and tissue fragility, but it lacks atrophic scars and delayed wound healing. Inheritance is autosomal recessive.


Neighborrs10456399
Distance209