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rs587779638

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779638(A;A)
Make rs587779638(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188999524
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779638
ebirs587779638
HLIrs587779638
Exacrs587779638
Varsomers587779638
Maprs587779638
PheGenIrs587779638
hapmaprs587779638
1000 genomesrs587779638
hgdprs587779638
ensemblrs587779638
gopubmedrs587779638
geneviewrs587779638
scholarrs587779638
googlers587779638
pharmgkbrs587779638
gwascentralrs587779638
openSNPrs587779638
23andMers587779638
23andMe allrs587779638
SNP Nexus

SNPshotrs587779638
SNPdbers587779638
MSV3drs587779638
GWAS Ctlgrs587779638
Max Magnitude0
ClinVar
Risk rs587779638(A;A)
Alt rs587779638(A;A)
Reference rs587779638(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.189864250G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087608.1,