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rs587779614

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779614(G;T)
Make rs587779614(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189007537
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779614
ebirs587779614
HLIrs587779614
Exacrs587779614
Varsomers587779614
Maprs587779614
PheGenIrs587779614
hapmaprs587779614
1000 genomesrs587779614
hgdprs587779614
ensemblrs587779614
gopubmedrs587779614
geneviewrs587779614
scholarrs587779614
googlers587779614
pharmgkbrs587779614
gwascentralrs587779614
openSNPrs587779614
23andMers587779614
23andMe allrs587779614
SNP Nexus

SNPshotrs587779614
SNPdbers587779614
MSV3drs587779614
GWAS Ctlgrs587779614
Max Magnitude0
ClinVar
Risk rs587779614(T;T)
Alt rs587779614(T;T)
Reference rs587779614(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.189872263G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087572.1,