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rs587779613

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779613(C;C)
Make rs587779613(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188997336
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779613
ebirs587779613
HLIrs587779613
Exacrs587779613
Varsomers587779613
Maprs587779613
PheGenIrs587779613
hapmaprs587779613
1000 genomesrs587779613
hgdprs587779613
ensemblrs587779613
gopubmedrs587779613
geneviewrs587779613
scholarrs587779613
googlers587779613
pharmgkbrs587779613
gwascentralrs587779613
openSNPrs587779613
23andMers587779613
23andMe allrs587779613
SNP Nexus

SNPshotrs587779613
SNPdbers587779613
MSV3drs587779613
GWAS Ctlgrs587779613
Max Magnitude0
ClinVar
Risk rs587779613(C;C)
Alt rs587779613(C;C)
Reference rs587779613(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.189862062G>C
CLNSRC
CLNACC RCV000087571.1,