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rs587779530

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587779530(C;C)
Make rs587779530(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188996498
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779530
ebirs587779530
HLIrs587779530
Exacrs587779530
Varsomers587779530
Maprs587779530
PheGenIrs587779530
hapmaprs587779530
1000 genomesrs587779530
hgdprs587779530
ensemblrs587779530
gopubmedrs587779530
geneviewrs587779530
scholarrs587779530
googlers587779530
pharmgkbrs587779530
gwascentralrs587779530
openSNPrs587779530
23andMers587779530
23andMe allrs587779530
SNP Nexus

SNPshotrs587779530
SNPdbers587779530
MSV3drs587779530
GWAS Ctlgrs587779530
Max Magnitude0
ClinVar
Risk rs587779530(C,G;C,G)
Alt rs587779530(C,G;C,G)
Reference rs587779530(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.189861224T>C; NC_000002.11:g.189861224T>G
CLNSRC
CLNACC RCV000087469.1, RCV000087588.1,