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rs587779566

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779566(C;C)
Make rs587779566(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189004126
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779566
ebirs587779566
HLIrs587779566
Exacrs587779566
Varsomers587779566
Maprs587779566
PheGenIrs587779566
hapmaprs587779566
1000 genomesrs587779566
hgdprs587779566
ensemblrs587779566
gopubmedrs587779566
geneviewrs587779566
scholarrs587779566
googlers587779566
pharmgkbrs587779566
gwascentralrs587779566
openSNPrs587779566
23andMers587779566
23andMe allrs587779566
SNP Nexus

SNPshotrs587779566
SNPdbers587779566
MSV3drs587779566
GWAS Ctlgrs587779566
Max Magnitude0
ClinVar
Risk rs587779566(C;C)
Alt rs587779566(C;C)
Reference rs587779566(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.189868852G>C
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087515.1,