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rs587779573

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779573(A;A)
Make rs587779573(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188997754
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779573
ebirs587779573
HLIrs587779573
Exacrs587779573
Varsomers587779573
Maprs587779573
PheGenIrs587779573
hapmaprs587779573
1000 genomesrs587779573
hgdprs587779573
ensemblrs587779573
gopubmedrs587779573
geneviewrs587779573
scholarrs587779573
googlers587779573
pharmgkbrs587779573
gwascentralrs587779573
openSNPrs587779573
23andMers587779573
23andMe allrs587779573
SNP Nexus

SNPshotrs587779573
SNPdbers587779573
MSV3drs587779573
GWAS Ctlgrs587779573
Max Magnitude0
ClinVar
Risk rs587779573(A,C;A,C)
Alt rs587779573(A,C;A,C)
Reference rs587779573(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.189862480G>A; NC_000002.11:g.189862480G>C
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087522.1, RCV000087699.1,