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rs587779684

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587779684(C;C)
Make rs587779684(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189003064
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779684
ebirs587779684
HLIrs587779684
Exacrs587779684
Varsomers587779684
Maprs587779684
PheGenIrs587779684
hapmaprs587779684
1000 genomesrs587779684
hgdprs587779684
ensemblrs587779684
gopubmedrs587779684
geneviewrs587779684
scholarrs587779684
googlers587779684
pharmgkbrs587779684
gwascentralrs587779684
openSNPrs587779684
23andMers587779684
23andMe allrs587779684
SNP Nexus

SNPshotrs587779684
SNPdbers587779684
MSV3drs587779684
GWAS Ctlgrs587779684
Max Magnitude0
ClinVar
Risk rs587779684(C;C)
Alt rs587779684(C;C)
Reference rs587779684(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.189867790T>C
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087681.1,