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rs587779627

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779627(G;T)
Make rs587779627(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189008934
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779627
ebirs587779627
HLIrs587779627
Exacrs587779627
Varsomers587779627
Maprs587779627
PheGenIrs587779627
hapmaprs587779627
1000 genomesrs587779627
hgdprs587779627
ensemblrs587779627
gopubmedrs587779627
geneviewrs587779627
scholarrs587779627
googlers587779627
pharmgkbrs587779627
gwascentralrs587779627
openSNPrs587779627
23andMers587779627
23andMe allrs587779627
SNP Nexus

SNPshotrs587779627
SNPdbers587779627
MSV3drs587779627
GWAS Ctlgrs587779627
Max Magnitude0
ClinVar
Risk rs587779627(T;T)
Alt rs587779627(T;T)
Reference rs587779627(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.189873660G>T
CLNSRC
CLNACC RCV000087590.1,