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rs587779489

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779489(A;A)
Make rs587779489(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188994577
GeneCOL3A1, MIR3606
is asnp
is mentioned by
dbSNPrs587779489
ebirs587779489
HLIrs587779489
Exacrs587779489
Varsomers587779489
Maprs587779489
PheGenIrs587779489
hapmaprs587779489
1000 genomesrs587779489
hgdprs587779489
ensemblrs587779489
gopubmedrs587779489
geneviewrs587779489
scholarrs587779489
googlers587779489
pharmgkbrs587779489
gwascentralrs587779489
openSNPrs587779489
23andMers587779489
23andMe allrs587779489
SNP Nexus

SNPshotrs587779489
SNPdbers587779489
MSV3drs587779489
GWAS Ctlgrs587779489
Max Magnitude0
ClinVar
Risk rs587779489(A,C;A,C)
Alt rs587779489(A,C;A,C)
Reference rs587779489(G;G)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1 MIR3606
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189859303G>A; NC_000002.11:g.189859303G>C
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087422.1, RCV000087567.1,