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rs587779672

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779672(A;A)
Make rs587779672(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189007510
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779672
ebirs587779672
HLIrs587779672
Exacrs587779672
Varsomers587779672
Maprs587779672
PheGenIrs587779672
hapmaprs587779672
1000 genomesrs587779672
hgdprs587779672
ensemblrs587779672
gopubmedrs587779672
geneviewrs587779672
scholarrs587779672
googlers587779672
pharmgkbrs587779672
gwascentralrs587779672
openSNPrs587779672
23andMers587779672
23andMe allrs587779672
SNP Nexus

SNPshotrs587779672
SNPdbers587779672
MSV3drs587779672
GWAS Ctlgrs587779672
Max Magnitude0
ClinVar
Risk rs587779672(A;A)
Alt rs587779672(A;A)
Reference rs587779672(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.189872236G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087667.1,