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rs587779682

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587779682(A;G)
Make rs587779682(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189006935
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779682
ebirs587779682
HLIrs587779682
Exacrs587779682
Varsomers587779682
Maprs587779682
PheGenIrs587779682
hapmaprs587779682
1000 genomesrs587779682
hgdprs587779682
ensemblrs587779682
gopubmedrs587779682
geneviewrs587779682
scholarrs587779682
googlers587779682
pharmgkbrs587779682
gwascentralrs587779682
openSNPrs587779682
23andMers587779682
23andMe allrs587779682
SNP Nexus

SNPshotrs587779682
SNPdbers587779682
MSV3drs587779682
GWAS Ctlgrs587779682
Max Magnitude0
ClinVar
Risk rs587779682(G;G)
Alt rs587779682(G;G)
Reference rs587779682(A;A)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189871661A>G
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087678.1,