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rs587779562

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779562(G;T)
Make rs587779562(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189008034
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779562
ebirs587779562
HLIrs587779562
Exacrs587779562
Varsomers587779562
Maprs587779562
PheGenIrs587779562
hapmaprs587779562
1000 genomesrs587779562
hgdprs587779562
ensemblrs587779562
gopubmedrs587779562
geneviewrs587779562
scholarrs587779562
googlers587779562
pharmgkbrs587779562
gwascentralrs587779562
openSNPrs587779562
23andMers587779562
23andMe allrs587779562
SNP Nexus

SNPshotrs587779562
SNPdbers587779562
MSV3drs587779562
GWAS Ctlgrs587779562
Max Magnitude0
ClinVar
Risk rs587779562(T;T)
Alt rs587779562(T;T)
Reference rs587779562(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.189872760G>T
CLNSRC
CLNACC RCV000087510.1,