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rs587779474

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779474(A;A)
Make rs587779474(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188999330
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779474
dbSNP (old)rs587779474
ClinGenrs587779474
ebirs587779474
HLIrs587779474
Exacrs587779474
Gnomadrs587779474
Varsomers587779474
Maprs587779474
PheGenIrs587779474
Biobankrs587779474
1000 genomesrs587779474
hgdprs587779474
ensemblrs587779474
gopubmedrs587779474
geneviewrs587779474
scholarrs587779474
googlers587779474
pharmgkbrs587779474
gwascentralrs587779474
openSNPrs587779474
23andMers587779474
23andMe allrs587779474
SNP Nexus

SNPshotrs587779474
SNPdbers587779474
MSV3drs587779474
GWAS Ctlgrs587779474
Max Magnitude0
ClinVar
Risk rs587779474(A;A)
Alt rs587779474(A;A)
Reference Rs587779474(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.189864056G>A
CLNSRC
CLNACC RCV000087405.1,