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rs587779555

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779555(A;A)
Make rs587779555(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188989442
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779555
ebirs587779555
HLIrs587779555
Exacrs587779555
Varsomers587779555
Maprs587779555
PheGenIrs587779555
hapmaprs587779555
1000 genomesrs587779555
hgdprs587779555
ensemblrs587779555
gopubmedrs587779555
geneviewrs587779555
scholarrs587779555
googlers587779555
pharmgkbrs587779555
gwascentralrs587779555
openSNPrs587779555
23andMers587779555
23andMe allrs587779555
SNP Nexus

SNPshotrs587779555
SNPdbers587779555
MSV3drs587779555
GWAS Ctlgrs587779555
Max Magnitude0
ClinVar
Risk rs587779555(A;A)
Alt rs587779555(A;A)
Reference rs587779555(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.189854168G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087496.1,