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rs587779710

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779710(G;T)
Make rs587779710(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188988127
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779710
ebirs587779710
HLIrs587779710
Exacrs587779710
Varsomers587779710
Maprs587779710
PheGenIrs587779710
hapmaprs587779710
1000 genomesrs587779710
hgdprs587779710
ensemblrs587779710
gopubmedrs587779710
geneviewrs587779710
scholarrs587779710
googlers587779710
pharmgkbrs587779710
gwascentralrs587779710
openSNPrs587779710
23andMers587779710
23andMe allrs587779710
SNP Nexus

SNPshotrs587779710
SNPdbers587779710
MSV3drs587779710
GWAS Ctlgrs587779710
Max Magnitude0
ClinVar
Risk rs587779710(T;T)
Alt rs587779710(T;T)
Reference rs587779710(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.189852853G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087716.1,