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rs587779510

From SNPedia

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Geno Mag Summary
(GTGCTCC;GTGCTCC) 0 common in clinvar
Make rs587779510(GTGCTCC;TAAG)
Make rs587779510(TAAG;TAAG)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188997166
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779510
ebirs587779510
HLIrs587779510
Exacrs587779510
Varsomers587779510
Maprs587779510
PheGenIrs587779510
hapmaprs587779510
1000 genomesrs587779510
hgdprs587779510
ensemblrs587779510
gopubmedrs587779510
geneviewrs587779510
scholarrs587779510
googlers587779510
pharmgkbrs587779510
gwascentralrs587779510
openSNPrs587779510
23andMers587779510
23andMe allrs587779510
SNP Nexus

SNPshotrs587779510
SNPdbers587779510
MSV3drs587779510
GWAS Ctlgrs587779510
Max Magnitude0
ClinVar
Risk rs587779510(TAAG;TAAG)
Alt rs587779510(TAAG;TAAG)
Reference rs587779510(GTGCTCC;GTGCTCC)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189861892_189861898delGTGCTCCinsTAAG
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087445.1,