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rs587779609

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779609(C;C)
Make rs587779609(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189008116
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779609
ebirs587779609
HLIrs587779609
Exacrs587779609
Varsomers587779609
Maprs587779609
PheGenIrs587779609
hapmaprs587779609
1000 genomesrs587779609
hgdprs587779609
ensemblrs587779609
gopubmedrs587779609
geneviewrs587779609
scholarrs587779609
googlers587779609
pharmgkbrs587779609
gwascentralrs587779609
openSNPrs587779609
23andMers587779609
23andMe allrs587779609
SNP Nexus

SNPshotrs587779609
SNPdbers587779609
MSV3drs587779609
GWAS Ctlgrs587779609
Max Magnitude0
ClinVar
Risk rs587779609(C,T;C,T)
Alt rs587779609(C,T;C,T)
Reference rs587779609(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.189872842G>C; NC_000002.11:g.189872842G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087565.1, RCV000087700.1,