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rs587779470

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779470(C;C)
Make rs587779470(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188989441
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779470
ebirs587779470
HLIrs587779470
Exacrs587779470
Varsomers587779470
Maprs587779470
PheGenIrs587779470
hapmaprs587779470
1000 genomesrs587779470
hgdprs587779470
ensemblrs587779470
gopubmedrs587779470
geneviewrs587779470
scholarrs587779470
googlers587779470
pharmgkbrs587779470
gwascentralrs587779470
openSNPrs587779470
23andMers587779470
23andMe allrs587779470
SNP Nexus

SNPshotrs587779470
SNPdbers587779470
MSV3drs587779470
GWAS Ctlgrs587779470
Max Magnitude0
ClinVar
Risk rs587779470(C;C)
Alt rs587779470(C;C)
Reference rs587779470(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.189854167G>C
CLNSRC
CLNACC RCV000087400.1,