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rs587779446

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779446(A;A)
Make rs587779446(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188988108
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779446
ebirs587779446
HLIrs587779446
Exacrs587779446
Varsomers587779446
Maprs587779446
PheGenIrs587779446
hapmaprs587779446
1000 genomesrs587779446
hgdprs587779446
ensemblrs587779446
gopubmedrs587779446
geneviewrs587779446
scholarrs587779446
googlers587779446
pharmgkbrs587779446
gwascentralrs587779446
openSNPrs587779446
23andMers587779446
23andMe allrs587779446
SNP Nexus

SNPshotrs587779446
SNPdbers587779446
MSV3drs587779446
GWAS Ctlgrs587779446
Max Magnitude0
ClinVar
Risk rs587779446(A;A)
Alt rs587779446(A;A)
Reference rs587779446(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.189852834G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087372.1,