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rs587779606

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779606(A;A)
Make rs587779606(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188999542
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779606
ebirs587779606
HLIrs587779606
Exacrs587779606
Varsomers587779606
Maprs587779606
PheGenIrs587779606
hapmaprs587779606
1000 genomesrs587779606
hgdprs587779606
ensemblrs587779606
gopubmedrs587779606
geneviewrs587779606
scholarrs587779606
googlers587779606
pharmgkbrs587779606
gwascentralrs587779606
openSNPrs587779606
23andMers587779606
23andMe allrs587779606
SNP Nexus

SNPshotrs587779606
SNPdbers587779606
MSV3drs587779606
GWAS Ctlgrs587779606
Max Magnitude0
ClinVar
Risk rs587779606(A;A)
Alt rs587779606(A;A)
Reference rs587779606(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.189864268G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087561.1,