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rs587779432

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779432(A;A)
Make rs587779432(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189004100
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779432
ebirs587779432
HLIrs587779432
Exacrs587779432
Varsomers587779432
Maprs587779432
PheGenIrs587779432
hapmaprs587779432
1000 genomesrs587779432
hgdprs587779432
ensemblrs587779432
gopubmedrs587779432
geneviewrs587779432
scholarrs587779432
googlers587779432
pharmgkbrs587779432
gwascentralrs587779432
openSNPrs587779432
23andMers587779432
23andMe allrs587779432
SNP Nexus

SNPshotrs587779432
SNPdbers587779432
MSV3drs587779432
GWAS Ctlgrs587779432
Max Magnitude0
ClinVar
Risk rs587779432(A;A)
Alt rs587779432(A;A)
Reference rs587779432(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.189868826G>A
CLNSRC
CLNACC RCV000087356.1,