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rs587779717

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779717(G;T)
Make rs587779717(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189003430
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779717
ebirs587779717
HLIrs587779717
Exacrs587779717
Varsomers587779717
Maprs587779717
PheGenIrs587779717
hapmaprs587779717
1000 genomesrs587779717
hgdprs587779717
ensemblrs587779717
gopubmedrs587779717
geneviewrs587779717
scholarrs587779717
googlers587779717
pharmgkbrs587779717
gwascentralrs587779717
openSNPrs587779717
23andMers587779717
23andMe allrs587779717
SNP Nexus

SNPshotrs587779717
SNPdbers587779717
MSV3drs587779717
GWAS Ctlgrs587779717
Max Magnitude0
ClinVar
Risk rs587779717(T;T)
Alt rs587779717(T;T)
Reference rs587779717(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.189868156G>T
CLNSRC
CLNACC RCV000087727.1,