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rs587779513

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587779513(C;C)
Make rs587779513(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189001452
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779513
ebirs587779513
HLIrs587779513
Exacrs587779513
Varsomers587779513
Maprs587779513
PheGenIrs587779513
hapmaprs587779513
1000 genomesrs587779513
hgdprs587779513
ensemblrs587779513
gopubmedrs587779513
geneviewrs587779513
scholarrs587779513
googlers587779513
pharmgkbrs587779513
gwascentralrs587779513
openSNPrs587779513
23andMers587779513
23andMe allrs587779513
SNP Nexus

SNPshotrs587779513
SNPdbers587779513
MSV3drs587779513
GWAS Ctlgrs587779513
Max Magnitude0
ClinVar
Risk rs587779513(C;C)
Alt rs587779513(C;C)
Reference rs587779513(T;T)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189866178T>C
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087450.1,