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rs587779418

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779418(A;A)
Make rs587779418(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188999888
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779418
dbSNP (old)rs587779418
ClinGenrs587779418
ebirs587779418
HLIrs587779418
Exacrs587779418
Gnomadrs587779418
Varsomers587779418
Maprs587779418
PheGenIrs587779418
Biobankrs587779418
1000 genomesrs587779418
hgdprs587779418
ensemblrs587779418
gopubmedrs587779418
geneviewrs587779418
scholarrs587779418
googlers587779418
pharmgkbrs587779418
gwascentralrs587779418
openSNPrs587779418
23andMers587779418
23andMe allrs587779418
SNP Nexus

SNPshotrs587779418
SNPdbers587779418
MSV3drs587779418
GWAS Ctlgrs587779418
Max Magnitude0
ClinVar
Risk rs587779418(A;A)
Alt rs587779418(A;A)
Reference Rs587779418(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.189864614G>A
CLNSRC
CLNACC RCV000087340.1,