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rs587779625

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779625(A;A)
Make rs587779625(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188990114
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779625
dbSNP (classic)rs587779625
ClinGenrs587779625
ebirs587779625
HLIrs587779625
Exacrs587779625
Gnomadrs587779625
Varsomers587779625
LitVarrs587779625
Maprs587779625
PheGenIrs587779625
Biobankrs587779625
1000 genomesrs587779625
hgdprs587779625
ensemblrs587779625
geneviewrs587779625
scholarrs587779625
googlers587779625
pharmgkbrs587779625
gwascentralrs587779625
openSNPrs587779625
23andMers587779625
SNPshotrs587779625
SNPdbers587779625
MSV3drs587779625
GWAS Ctlgrs587779625
Max Magnitude0
ClinVar
Risk rs587779625(A;A)
Alt rs587779625(A;A)
Reference Rs587779625(G;G)
Significance Pathogenic
Disease Ehlers-Danlos syndrome not provided
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4 not provided
Reversed 0
HGVS NC_000002.11:g.189854840G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087587.3, RCV000181072.1,