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rs587779668

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779668(C;C)
Make rs587779668(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188999357
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779668
ebirs587779668
HLIrs587779668
Exacrs587779668
Varsomers587779668
Maprs587779668
PheGenIrs587779668
hapmaprs587779668
1000 genomesrs587779668
hgdprs587779668
ensemblrs587779668
gopubmedrs587779668
geneviewrs587779668
scholarrs587779668
googlers587779668
pharmgkbrs587779668
gwascentralrs587779668
openSNPrs587779668
23andMers587779668
23andMe allrs587779668
SNP Nexus

SNPshotrs587779668
SNPdbers587779668
MSV3drs587779668
GWAS Ctlgrs587779668
Max Magnitude0
ClinVar
Risk rs587779668(C;C)
Alt rs587779668(C;C)
Reference rs587779668(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.189864083G>C
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087656.1,