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rs587779533

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779533(G;T)
Make rs587779533(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188989433
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779533
dbSNP (old)rs587779533
ClinGenrs587779533
ebirs587779533
HLIrs587779533
Exacrs587779533
Gnomadrs587779533
Varsomers587779533
Maprs587779533
PheGenIrs587779533
Biobankrs587779533
1000 genomesrs587779533
hgdprs587779533
ensemblrs587779533
gopubmedrs587779533
geneviewrs587779533
scholarrs587779533
googlers587779533
pharmgkbrs587779533
gwascentralrs587779533
openSNPrs587779533
23andMers587779533
23andMe allrs587779533
SNP Nexus

SNPshotrs587779533
SNPdbers587779533
MSV3drs587779533
GWAS Ctlgrs587779533
Max Magnitude0
ClinVar
Risk rs587779533(C;C) rs587779533(T;T)
Alt rs587779533(C;C) rs587779533(T;T)
Reference Rs587779533(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.189854159G>C; NC_000002.11:g.189854159G>T
CLNSRC UniProtKB (protein)
CLNACC RCV000087708.1, RCV000489400.1, RCV000087473.1,