Have questions? Visit https://www.reddit.com/r/SNPedia

rs587779548

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779548(C;C)
Make rs587779548(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189005413
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779548
ebirs587779548
HLIrs587779548
Exacrs587779548
Varsomers587779548
Maprs587779548
PheGenIrs587779548
hapmaprs587779548
1000 genomesrs587779548
hgdprs587779548
ensemblrs587779548
gopubmedrs587779548
geneviewrs587779548
scholarrs587779548
googlers587779548
pharmgkbrs587779548
gwascentralrs587779548
openSNPrs587779548
23andMers587779548
23andMe allrs587779548
SNP Nexus

SNPshotrs587779548
SNPdbers587779548
MSV3drs587779548
GWAS Ctlgrs587779548
Max Magnitude0
ClinVar
Risk rs587779548(A,C;A,C)
Alt rs587779548(A,C;A,C)
Reference rs587779548(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.189870139G>A; NC_000002.11:g.189870139G>C
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087624.1, RCV000087489.1,