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rs587779488

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779488(G;T)
Make rs587779488(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189005353
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779488
ebirs587779488
HLIrs587779488
Exacrs587779488
Varsomers587779488
Maprs587779488
PheGenIrs587779488
hapmaprs587779488
1000 genomesrs587779488
hgdprs587779488
ensemblrs587779488
gopubmedrs587779488
geneviewrs587779488
scholarrs587779488
googlers587779488
pharmgkbrs587779488
gwascentralrs587779488
openSNPrs587779488
23andMers587779488
23andMe allrs587779488
SNP Nexus

SNPshotrs587779488
SNPdbers587779488
MSV3drs587779488
GWAS Ctlgrs587779488
Max Magnitude0
ClinVar
Risk rs587779488(T;T)
Alt rs587779488(T;T)
Reference rs587779488(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.189870079G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087421.1,