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rs587779719

From SNPedia

Orientationplus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs587779719(-;-)
Make rs587779719(-;TT)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189011659
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779719
ebirs587779719
HLIrs587779719
Exacrs587779719
Varsomers587779719
Maprs587779719
PheGenIrs587779719
hapmaprs587779719
1000 genomesrs587779719
hgdprs587779719
ensemblrs587779719
gopubmedrs587779719
geneviewrs587779719
scholarrs587779719
googlers587779719
pharmgkbrs587779719
gwascentralrs587779719
openSNPrs587779719
23andMers587779719
23andMe allrs587779719
SNP Nexus

SNPshotrs587779719
SNPdbers587779719
MSV3drs587779719
GWAS Ctlgrs587779719
Max Magnitude0
ClinVar
Risk rs587779719(;)
Alt rs587779719(;)
Reference rs587779719(TT;TT)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189876385_189876386delTT
CLNSRC
CLNACC RCV000087730.1,