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rs587779541

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779541(G;T)
Make rs587779541(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189001398
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779541
ebirs587779541
HLIrs587779541
Exacrs587779541
Varsomers587779541
Maprs587779541
PheGenIrs587779541
hapmaprs587779541
1000 genomesrs587779541
hgdprs587779541
ensemblrs587779541
gopubmedrs587779541
geneviewrs587779541
scholarrs587779541
googlers587779541
pharmgkbrs587779541
gwascentralrs587779541
openSNPrs587779541
23andMers587779541
23andMe allrs587779541
SNP Nexus

SNPshotrs587779541
SNPdbers587779541
MSV3drs587779541
GWAS Ctlgrs587779541
Max Magnitude0
ClinVar
Risk rs587779541(A,T;A,T)
Alt rs587779541(A,T;A,T)
Reference rs587779541(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.189866124G>A; NC_000002.11:g.189866124G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087615.1, RCV000087482.1,