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rs6941704

From SNPedia

Orientationplus
Stabilizedplus
Make rs6941704(C;C)
Make rs6941704(C;T)
Make rs6941704(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position32042125
GeneCYP21A2, TNXB
is asnp
is mentioned by
dbSNPrs6941704
ebirs6941704
HLIrs6941704
Exacrs6941704
Varsomers6941704
Maprs6941704
PheGenIrs6941704
hapmaprs6941704
1000 genomesrs6941704
hgdprs6941704
ensemblrs6941704
gopubmedrs6941704
geneviewrs6941704
scholarrs6941704
googlers6941704
pharmgkbrs6941704
gwascentralrs6941704
openSNPrs6941704
23andMers6941704
23andMe allrs6941704
SNP Nexus

SNPshotrs6941704
SNPdbers6941704
MSV3drs6941704
GWAS Ctlgrs6941704
Max Magnitude
Venter snp
Source plos
Gene TNXB
allele T
frequency
sift AFFECT FUNCTION
HuRef 1103652827632
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.


Neighborrs36007903
Distance241
Neighborrs6457477
Distance224