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rs587779473

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779473(G;T)
Make rs587779473(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189008099
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779473
ebirs587779473
HLIrs587779473
Exacrs587779473
Varsomers587779473
Maprs587779473
PheGenIrs587779473
hapmaprs587779473
1000 genomesrs587779473
hgdprs587779473
ensemblrs587779473
gopubmedrs587779473
geneviewrs587779473
scholarrs587779473
googlers587779473
pharmgkbrs587779473
gwascentralrs587779473
openSNPrs587779473
23andMers587779473
23andMe allrs587779473
SNP Nexus

SNPshotrs587779473
SNPdbers587779473
MSV3drs587779473
GWAS Ctlgrs587779473
Max Magnitude0
ClinVar
Risk rs587779473(A,T;A,T)
Alt rs587779473(A,T;A,T)
Reference rs587779473(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.189872825G>A; NC_000002.11:g.189872825G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087726.1, RCV000087404.1,