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rs587779690

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779690(G;T)
Make rs587779690(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189003411
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779690
ebirs587779690
HLIrs587779690
Exacrs587779690
Varsomers587779690
Maprs587779690
PheGenIrs587779690
hapmaprs587779690
1000 genomesrs587779690
hgdprs587779690
ensemblrs587779690
gopubmedrs587779690
geneviewrs587779690
scholarrs587779690
googlers587779690
pharmgkbrs587779690
gwascentralrs587779690
openSNPrs587779690
23andMers587779690
23andMe allrs587779690
SNP Nexus

SNPshotrs587779690
SNPdbers587779690
MSV3drs587779690
GWAS Ctlgrs587779690
Max Magnitude0
ClinVar
Risk rs587779690(T;T)
Alt rs587779690(T;T)
Reference rs587779690(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.189868137G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087688.1,