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rs587779429

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587779429(C;C)
Make rs587779429(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188998720
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779429
ebirs587779429
HLIrs587779429
Exacrs587779429
Varsomers587779429
Maprs587779429
PheGenIrs587779429
hapmaprs587779429
1000 genomesrs587779429
hgdprs587779429
ensemblrs587779429
gopubmedrs587779429
geneviewrs587779429
scholarrs587779429
googlers587779429
pharmgkbrs587779429
gwascentralrs587779429
openSNPrs587779429
23andMers587779429
23andMe allrs587779429
SNP Nexus

SNPshotrs587779429
SNPdbers587779429
MSV3drs587779429
GWAS Ctlgrs587779429
Max Magnitude0
ClinVar
Risk rs587779429(C;C)
Alt rs587779429(C;C)
Reference rs587779429(T;T)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189863446T>C
CLNSRC
CLNACC RCV000087352.1,