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rs587779662

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779662(A;A)
Make rs587779662(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189004073
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779662
ebirs587779662
HLIrs587779662
Exacrs587779662
Varsomers587779662
Maprs587779662
PheGenIrs587779662
hapmaprs587779662
1000 genomesrs587779662
hgdprs587779662
ensemblrs587779662
gopubmedrs587779662
geneviewrs587779662
scholarrs587779662
googlers587779662
pharmgkbrs587779662
gwascentralrs587779662
openSNPrs587779662
23andMers587779662
23andMe allrs587779662
SNP Nexus

SNPshotrs587779662
SNPdbers587779662
MSV3drs587779662
GWAS Ctlgrs587779662
Max Magnitude0
ClinVar
Risk rs587779662(A;A)
Alt rs587779662(A;A)
Reference rs587779662(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.189868799G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087645.1,