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rs587779711

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779711(A;A)
Make rs587779711(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188988617
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779711
ebirs587779711
HLIrs587779711
Exacrs587779711
Varsomers587779711
Maprs587779711
PheGenIrs587779711
hapmaprs587779711
1000 genomesrs587779711
hgdprs587779711
ensemblrs587779711
gopubmedrs587779711
geneviewrs587779711
scholarrs587779711
googlers587779711
pharmgkbrs587779711
gwascentralrs587779711
openSNPrs587779711
23andMers587779711
23andMe allrs587779711
SNP Nexus

SNPshotrs587779711
SNPdbers587779711
MSV3drs587779711
GWAS Ctlgrs587779711
Max Magnitude0
ClinVar
Risk rs587779711(A;A)
Alt rs587779711(A;A)
Reference rs587779711(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.189853343G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087717.1,