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rs587779520

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779520(C;C)
Make rs587779520(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188994037
GeneCOL3A1, MIR3606
is asnp
is mentioned by
dbSNPrs587779520
ebirs587779520
HLIrs587779520
Exacrs587779520
Varsomers587779520
Maprs587779520
PheGenIrs587779520
hapmaprs587779520
1000 genomesrs587779520
hgdprs587779520
ensemblrs587779520
gopubmedrs587779520
geneviewrs587779520
scholarrs587779520
googlers587779520
pharmgkbrs587779520
gwascentralrs587779520
openSNPrs587779520
23andMers587779520
23andMe allrs587779520
SNP Nexus

SNPshotrs587779520
SNPdbers587779520
MSV3drs587779520
GWAS Ctlgrs587779520
Max Magnitude0
ClinVar
Risk rs587779520(C;C)
Alt rs587779520(C;C)
Reference rs587779520(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.189858763G>C
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087457.1,