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rs587779465

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779465(A;A)
Make rs587779465(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189008126
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779465
ebirs587779465
HLIrs587779465
Exacrs587779465
Varsomers587779465
Maprs587779465
PheGenIrs587779465
hapmaprs587779465
1000 genomesrs587779465
hgdprs587779465
ensemblrs587779465
gopubmedrs587779465
geneviewrs587779465
scholarrs587779465
googlers587779465
pharmgkbrs587779465
gwascentralrs587779465
openSNPrs587779465
23andMers587779465
23andMe allrs587779465
SNP Nexus

SNPshotrs587779465
SNPdbers587779465
MSV3drs587779465
GWAS Ctlgrs587779465
Max Magnitude0
ClinVar
Risk rs587779465(A,T;A,T)
Alt rs587779465(A,T;A,T)
Reference rs587779465(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.189872852G>A; NC_000002.11:g.189872852G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087394.1, RCV000087436.1,