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rs587779467

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587779467(C;T)
Make rs587779467(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189010201
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779467
ebirs587779467
HLIrs587779467
Exacrs587779467
Varsomers587779467
Maprs587779467
PheGenIrs587779467
hapmaprs587779467
1000 genomesrs587779467
hgdprs587779467
ensemblrs587779467
gopubmedrs587779467
geneviewrs587779467
scholarrs587779467
googlers587779467
pharmgkbrs587779467
gwascentralrs587779467
openSNPrs587779467
23andMers587779467
23andMe allrs587779467
SNP Nexus

SNPshotrs587779467
SNPdbers587779467
MSV3drs587779467
GWAS Ctlgrs587779467
Max Magnitude0
ClinVar
Risk rs587779467(G,T;G,T)
Alt rs587779467(G,T;G,T)
Reference rs587779467(C;C)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189874927C>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087397.1,