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rs587779582

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779582(G;T)
Make rs587779582(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189006355
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779582
ebirs587779582
HLIrs587779582
Exacrs587779582
Varsomers587779582
Maprs587779582
PheGenIrs587779582
hapmaprs587779582
1000 genomesrs587779582
hgdprs587779582
ensemblrs587779582
gopubmedrs587779582
geneviewrs587779582
scholarrs587779582
googlers587779582
pharmgkbrs587779582
gwascentralrs587779582
openSNPrs587779582
23andMers587779582
23andMe allrs587779582
SNP Nexus

SNPshotrs587779582
SNPdbers587779582
MSV3drs587779582
GWAS Ctlgrs587779582
Max Magnitude0
ClinVar
Risk rs587779582(T;T)
Alt rs587779582(T;T)
Reference rs587779582(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.189871081G>T
CLNSRC
CLNACC RCV000087532.1,