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rs587779704

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779704(G;T)
Make rs587779704(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189006354
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779704
ClinGenrs587779704
ebirs587779704
HLIrs587779704
Exacrs587779704
Varsomers587779704
Maprs587779704
PheGenIrs587779704
hapmaprs587779704
1000 genomesrs587779704
hgdprs587779704
ensemblrs587779704
gopubmedrs587779704
geneviewrs587779704
scholarrs587779704
googlers587779704
pharmgkbrs587779704
gwascentralrs587779704
openSNPrs587779704
23andMers587779704
23andMe allrs587779704
SNP Nexus

SNPshotrs587779704
SNPdbers587779704
MSV3drs587779704
GWAS Ctlgrs587779704
Max Magnitude0
ClinVar
Risk rs587779704(T;T)
Alt rs587779704(T;T)
Reference Rs587779704(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.189871080G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1 UniProtKB (protein)
CLNACC RCV000087706.1,