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rs587779677

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779677(A;A)
Make rs587779677(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188974519
GeneCOL3A1, LOC105373791
is asnp
is mentioned by
dbSNPrs587779677
ebirs587779677
HLIrs587779677
Exacrs587779677
Varsomers587779677
Maprs587779677
PheGenIrs587779677
hapmaprs587779677
1000 genomesrs587779677
hgdprs587779677
ensemblrs587779677
gopubmedrs587779677
geneviewrs587779677
scholarrs587779677
googlers587779677
pharmgkbrs587779677
gwascentralrs587779677
openSNPrs587779677
23andMers587779677
23andMe allrs587779677
SNP Nexus

SNPshotrs587779677
SNPdbers587779677
MSV3drs587779677
GWAS Ctlgrs587779677
Max Magnitude0
ClinVar
Risk rs587779677(A;A)
Alt rs587779677(A;A)
Reference rs587779677(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.189839245G>A
CLNSRC
CLNACC RCV000087673.1,