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rs587779697

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779697(G;T)
Make rs587779697(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188999843
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779697
ebirs587779697
HLIrs587779697
Exacrs587779697
Varsomers587779697
Maprs587779697
PheGenIrs587779697
hapmaprs587779697
1000 genomesrs587779697
hgdprs587779697
ensemblrs587779697
gopubmedrs587779697
geneviewrs587779697
scholarrs587779697
googlers587779697
pharmgkbrs587779697
gwascentralrs587779697
openSNPrs587779697
23andMers587779697
23andMe allrs587779697
SNP Nexus

SNPshotrs587779697
SNPdbers587779697
MSV3drs587779697
GWAS Ctlgrs587779697
Max Magnitude0
ClinVar
Risk rs587779697(T;T)
Alt rs587779697(T;T)
Reference rs587779697(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.189864569G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087695.1,