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rs587779664

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779664(A;A)
Make rs587779664(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189003063
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779664
ebirs587779664
HLIrs587779664
Exacrs587779664
Varsomers587779664
Maprs587779664
PheGenIrs587779664
hapmaprs587779664
1000 genomesrs587779664
hgdprs587779664
ensemblrs587779664
gopubmedrs587779664
geneviewrs587779664
scholarrs587779664
googlers587779664
pharmgkbrs587779664
gwascentralrs587779664
openSNPrs587779664
23andMers587779664
23andMe allrs587779664
SNP Nexus

SNPshotrs587779664
SNPdbers587779664
MSV3drs587779664
GWAS Ctlgrs587779664
Max Magnitude0
ClinVar
Risk rs587779664(A,C;A,C)
Alt rs587779664(A,C;A,C)
Reference rs587779664(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.189867789G>A; NC_000002.11:g.189867789G>C
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087651.2, RCV000087718.1,