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rs587779636

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779636(A;A)
Make rs587779636(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189002356
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779636
ebirs587779636
HLIrs587779636
Exacrs587779636
Varsomers587779636
Maprs587779636
PheGenIrs587779636
hapmaprs587779636
1000 genomesrs587779636
hgdprs587779636
ensemblrs587779636
gopubmedrs587779636
geneviewrs587779636
scholarrs587779636
googlers587779636
pharmgkbrs587779636
gwascentralrs587779636
openSNPrs587779636
23andMers587779636
23andMe allrs587779636
SNP Nexus

SNPshotrs587779636
SNPdbers587779636
MSV3drs587779636
GWAS Ctlgrs587779636
Max Magnitude0
ClinVar
Risk rs587779636(A;A)
Alt rs587779636(A;A)
Reference rs587779636(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.189867082G>A
CLNSRC
CLNACC RCV000087606.1,