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rs587779504

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779504(A;A)
Make rs587779504(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189008960
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779504
ebirs587779504
HLIrs587779504
Exacrs587779504
Varsomers587779504
Maprs587779504
PheGenIrs587779504
hapmaprs587779504
1000 genomesrs587779504
hgdprs587779504
ensemblrs587779504
gopubmedrs587779504
geneviewrs587779504
scholarrs587779504
googlers587779504
pharmgkbrs587779504
gwascentralrs587779504
openSNPrs587779504
23andMers587779504
23andMe allrs587779504
SNP Nexus

SNPshotrs587779504
SNPdbers587779504
MSV3drs587779504
GWAS Ctlgrs587779504
Max Magnitude0
ClinVar
Risk rs587779504(A;A)
Alt rs587779504(A;A)
Reference rs587779504(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.189873686G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087439.1,