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rs587779556

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779556(C;C)
Make rs587779556(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188991668
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779556
ebirs587779556
HLIrs587779556
Exacrs587779556
Varsomers587779556
Maprs587779556
PheGenIrs587779556
hapmaprs587779556
1000 genomesrs587779556
hgdprs587779556
ensemblrs587779556
gopubmedrs587779556
geneviewrs587779556
scholarrs587779556
googlers587779556
pharmgkbrs587779556
gwascentralrs587779556
openSNPrs587779556
23andMers587779556
23andMe allrs587779556
SNP Nexus

SNPshotrs587779556
SNPdbers587779556
MSV3drs587779556
GWAS Ctlgrs587779556
Max Magnitude0
ClinVar
Risk rs587779556(C;C)
Alt rs587779556(C;C)
Reference rs587779556(G;G)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189856394G>C
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087498.1,