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rs587779563

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779563(A;A)
Make rs587779563(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189006444
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779563
ebirs587779563
HLIrs587779563
Exacrs587779563
Varsomers587779563
Maprs587779563
PheGenIrs587779563
hapmaprs587779563
1000 genomesrs587779563
hgdprs587779563
ensemblrs587779563
gopubmedrs587779563
geneviewrs587779563
scholarrs587779563
googlers587779563
pharmgkbrs587779563
gwascentralrs587779563
openSNPrs587779563
23andMers587779563
23andMe allrs587779563
SNP Nexus

SNPshotrs587779563
SNPdbers587779563
MSV3drs587779563
GWAS Ctlgrs587779563
Max Magnitude0
ClinVar
Risk rs587779563(A;A)
Alt rs587779563(A;A)
Reference rs587779563(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.189871170G>A
CLNSRC
CLNACC RCV000087511.1,