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rs587779522

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779522(C;C)
Make rs587779522(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188997736
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779522
ebirs587779522
HLIrs587779522
Exacrs587779522
Varsomers587779522
Maprs587779522
PheGenIrs587779522
hapmaprs587779522
1000 genomesrs587779522
hgdprs587779522
ensemblrs587779522
gopubmedrs587779522
geneviewrs587779522
scholarrs587779522
googlers587779522
pharmgkbrs587779522
gwascentralrs587779522
openSNPrs587779522
23andMers587779522
23andMe allrs587779522
SNP Nexus

SNPshotrs587779522
SNPdbers587779522
MSV3drs587779522
GWAS Ctlgrs587779522
Max Magnitude0
ClinVar
Risk rs587779522(C;C)
Alt rs587779522(C;C)
Reference rs587779522(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.189862462G>C
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087459.1,