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rs587779623

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779623(A;A)
Make rs587779623(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188999375
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779623
ebirs587779623
HLIrs587779623
Exacrs587779623
Varsomers587779623
Maprs587779623
PheGenIrs587779623
hapmaprs587779623
1000 genomesrs587779623
hgdprs587779623
ensemblrs587779623
gopubmedrs587779623
geneviewrs587779623
scholarrs587779623
googlers587779623
pharmgkbrs587779623
gwascentralrs587779623
openSNPrs587779623
23andMers587779623
23andMe allrs587779623
SNP Nexus

SNPshotrs587779623
SNPdbers587779623
MSV3drs587779623
GWAS Ctlgrs587779623
Max Magnitude0
ClinVar
Risk rs587779623(A;A)
Alt rs587779623(A;A)
Reference rs587779623(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.189864101G>A
CLNSRC
CLNACC RCV000087584.1,