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rs587779546

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587779546(A;C)
Make rs587779546(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189007883
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779546
ebirs587779546
HLIrs587779546
Exacrs587779546
Varsomers587779546
Maprs587779546
PheGenIrs587779546
hapmaprs587779546
1000 genomesrs587779546
hgdprs587779546
ensemblrs587779546
gopubmedrs587779546
geneviewrs587779546
scholarrs587779546
googlers587779546
pharmgkbrs587779546
gwascentralrs587779546
openSNPrs587779546
23andMers587779546
23andMe allrs587779546
SNP Nexus

SNPshotrs587779546
SNPdbers587779546
MSV3drs587779546
GWAS Ctlgrs587779546
Max Magnitude0
ClinVar
Risk rs587779546(C;C)
Alt rs587779546(C;C)
Reference rs587779546(A;A)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189872609A>C
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087487.1,