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rs587779572

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587779572(-;-)
Make rs587779572(-;T)
Make rs587779572(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189002353
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779572
ebirs587779572
HLIrs587779572
Exacrs587779572
Varsomers587779572
Maprs587779572
PheGenIrs587779572
hapmaprs587779572
1000 genomesrs587779572
hgdprs587779572
ensemblrs587779572
gopubmedrs587779572
geneviewrs587779572
scholarrs587779572
googlers587779572
pharmgkbrs587779572
gwascentralrs587779572
openSNPrs587779572
23andMers587779572
23andMe allrs587779572
SNP Nexus

SNPshotrs587779572
SNPdbers587779572
MSV3drs587779572
GWAS Ctlgrs587779572
Max Magnitude0
ClinVar
Risk rs587779572(T;T)
Alt rs587779572(T;T)
Reference rs587779572(;)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189867079dupT
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087521.1,