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rs587779626

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779626(A;A)
Make rs587779626(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188988618
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779626
ebirs587779626
HLIrs587779626
Exacrs587779626
Varsomers587779626
Maprs587779626
PheGenIrs587779626
hapmaprs587779626
1000 genomesrs587779626
hgdprs587779626
ensemblrs587779626
gopubmedrs587779626
geneviewrs587779626
scholarrs587779626
googlers587779626
pharmgkbrs587779626
gwascentralrs587779626
openSNPrs587779626
23andMers587779626
23andMe allrs587779626
SNP Nexus

SNPshotrs587779626
SNPdbers587779626
MSV3drs587779626
GWAS Ctlgrs587779626
Max Magnitude0
ClinVar
Risk rs587779626(A;A)
Alt rs587779626(A;A)
Reference rs587779626(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.189853344G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087589.1,