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rs587779524

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587779524(-;-)
Make rs587779524(-;T)
Make rs587779524(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188988136
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779524
ebirs587779524
HLIrs587779524
Exacrs587779524
Varsomers587779524
Maprs587779524
PheGenIrs587779524
hapmaprs587779524
1000 genomesrs587779524
hgdprs587779524
ensemblrs587779524
gopubmedrs587779524
geneviewrs587779524
scholarrs587779524
googlers587779524
pharmgkbrs587779524
gwascentralrs587779524
openSNPrs587779524
23andMers587779524
23andMe allrs587779524
SNP Nexus

SNPshotrs587779524
SNPdbers587779524
MSV3drs587779524
GWAS Ctlgrs587779524
Max Magnitude0
ClinVar
Risk rs587779524(T;T)
Alt rs587779524(T;T)
Reference rs587779524(;)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189852862dupT
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087461.1,