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rs587779637

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779637(A;A)
Make rs587779637(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188994288
GeneCOL3A1, MIR3606
is asnp
is mentioned by
dbSNPrs587779637
ClinGenrs587779637
ebirs587779637
HLIrs587779637
Exacrs587779637
Varsomers587779637
Maprs587779637
PheGenIrs587779637
hapmaprs587779637
1000 genomesrs587779637
hgdprs587779637
ensemblrs587779637
gopubmedrs587779637
geneviewrs587779637
scholarrs587779637
googlers587779637
pharmgkbrs587779637
gwascentralrs587779637
openSNPrs587779637
23andMers587779637
23andMe allrs587779637
SNP Nexus

SNPshotrs587779637
SNPdbers587779637
MSV3drs587779637
GWAS Ctlgrs587779637
Max Magnitude0
ClinVar
Risk rs587779637(A;A)
Alt rs587779637(A;A)
Reference Rs587779637(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.189859014G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000087607.1,