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rs587779518

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779518(G;T)
Make rs587779518(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188989424
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779518
ebirs587779518
HLIrs587779518
Exacrs587779518
Varsomers587779518
Maprs587779518
PheGenIrs587779518
hapmaprs587779518
1000 genomesrs587779518
hgdprs587779518
ensemblrs587779518
gopubmedrs587779518
geneviewrs587779518
scholarrs587779518
googlers587779518
pharmgkbrs587779518
gwascentralrs587779518
openSNPrs587779518
23andMers587779518
23andMe allrs587779518
SNP Nexus

SNPshotrs587779518
SNPdbers587779518
MSV3drs587779518
GWAS Ctlgrs587779518
Max Magnitude0
ClinVar
Risk rs587779518(A,T;A,T)
Alt rs587779518(A,T;A,T)
Reference rs587779518(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.189854150G>A; NC_000002.11:g.189854150G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087631.1, RCV000087455.1,