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rs587779591

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779591(A;A)
Make rs587779591(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188999349
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779591
ebirs587779591
HLIrs587779591
Exacrs587779591
Varsomers587779591
Maprs587779591
PheGenIrs587779591
hapmaprs587779591
1000 genomesrs587779591
hgdprs587779591
ensemblrs587779591
gopubmedrs587779591
geneviewrs587779591
scholarrs587779591
googlers587779591
pharmgkbrs587779591
gwascentralrs587779591
openSNPrs587779591
23andMers587779591
23andMe allrs587779591
SNP Nexus

SNPshotrs587779591
SNPdbers587779591
MSV3drs587779591
GWAS Ctlgrs587779591
Max Magnitude0
ClinVar
Risk rs587779591(A;A)
Alt rs587779591(A;A)
Reference rs587779591(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.189864075G>A
CLNSRC
CLNACC RCV000087543.1,