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rs587779667

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587779667(G;G)
Make rs587779667(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189007457
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779667
ebirs587779667
HLIrs587779667
Exacrs587779667
Varsomers587779667
Maprs587779667
PheGenIrs587779667
hapmaprs587779667
1000 genomesrs587779667
hgdprs587779667
ensemblrs587779667
gopubmedrs587779667
geneviewrs587779667
scholarrs587779667
googlers587779667
pharmgkbrs587779667
gwascentralrs587779667
openSNPrs587779667
23andMers587779667
23andMe allrs587779667
SNP Nexus

SNPshotrs587779667
SNPdbers587779667
MSV3drs587779667
GWAS Ctlgrs587779667
Max Magnitude0
ClinVar
Risk rs587779667(G;G)
Alt rs587779667(G;G)
Reference rs587779667(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.189872183T>G
CLNSRC
CLNACC RCV000087655.1,