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rs587779675

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779675(C;C)
Make rs587779675(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188999384
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779675
ebirs587779675
HLIrs587779675
Exacrs587779675
Varsomers587779675
Maprs587779675
PheGenIrs587779675
hapmaprs587779675
1000 genomesrs587779675
hgdprs587779675
ensemblrs587779675
gopubmedrs587779675
geneviewrs587779675
scholarrs587779675
googlers587779675
pharmgkbrs587779675
gwascentralrs587779675
openSNPrs587779675
23andMers587779675
23andMe allrs587779675
SNP Nexus

SNPshotrs587779675
SNPdbers587779675
MSV3drs587779675
GWAS Ctlgrs587779675
Max Magnitude0
ClinVar
Risk rs587779675(C;C)
Alt rs587779675(C;C)
Reference rs587779675(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.189864110G>C
CLNSRC
CLNACC RCV000087670.1,