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rs587779515

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779515(G;T)
Make rs587779515(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188988636
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779515
ebirs587779515
HLIrs587779515
Exacrs587779515
Varsomers587779515
Maprs587779515
PheGenIrs587779515
hapmaprs587779515
1000 genomesrs587779515
hgdprs587779515
ensemblrs587779515
gopubmedrs587779515
geneviewrs587779515
scholarrs587779515
googlers587779515
pharmgkbrs587779515
gwascentralrs587779515
openSNPrs587779515
23andMers587779515
23andMe allrs587779515
SNP Nexus

SNPshotrs587779515
SNPdbers587779515
MSV3drs587779515
GWAS Ctlgrs587779515
Max Magnitude0
ClinVar
Risk rs587779515(T;T)
Alt rs587779515(T;T)
Reference rs587779515(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.189853362G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087452.1,