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rs587779635

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779635(A;A)
Make rs587779635(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188990344
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779635
ebirs587779635
HLIrs587779635
Exacrs587779635
Varsomers587779635
Maprs587779635
PheGenIrs587779635
hapmaprs587779635
1000 genomesrs587779635
hgdprs587779635
ensemblrs587779635
gopubmedrs587779635
geneviewrs587779635
scholarrs587779635
googlers587779635
pharmgkbrs587779635
gwascentralrs587779635
openSNPrs587779635
23andMers587779635
23andMe allrs587779635
SNP Nexus

SNPshotrs587779635
SNPdbers587779635
MSV3drs587779635
GWAS Ctlgrs587779635
Max Magnitude0
ClinVar
Risk rs587779635(A;A)
Alt rs587779635(A;A)
Reference rs587779635(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.189855070G>A
CLNSRC
CLNACC RCV000087605.1,