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rs587779493

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779493(A;A)
Make rs587779493(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188998675
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779493
ebirs587779493
HLIrs587779493
Exacrs587779493
Varsomers587779493
Maprs587779493
PheGenIrs587779493
hapmaprs587779493
1000 genomesrs587779493
hgdprs587779493
ensemblrs587779493
gopubmedrs587779493
geneviewrs587779493
scholarrs587779493
googlers587779493
pharmgkbrs587779493
gwascentralrs587779493
openSNPrs587779493
23andMers587779493
23andMe allrs587779493
SNP Nexus

SNPshotrs587779493
SNPdbers587779493
MSV3drs587779493
GWAS Ctlgrs587779493
Max Magnitude0
ClinVar
Risk rs587779493(A;A)
Alt rs587779493(A;A)
Reference rs587779493(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.189863401G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087426.1,