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rs587779436

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779436(C;C)
Make rs587779436(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188988608
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779436
ebirs587779436
HLIrs587779436
Exacrs587779436
Varsomers587779436
Maprs587779436
PheGenIrs587779436
hapmaprs587779436
1000 genomesrs587779436
hgdprs587779436
ensemblrs587779436
gopubmedrs587779436
geneviewrs587779436
scholarrs587779436
googlers587779436
pharmgkbrs587779436
gwascentralrs587779436
openSNPrs587779436
23andMers587779436
23andMe allrs587779436
SNP Nexus

SNPshotrs587779436
SNPdbers587779436
MSV3drs587779436
GWAS Ctlgrs587779436
Max Magnitude0
ClinVar
Risk rs587779436(C;C)
Alt rs587779436(C;C)
Reference rs587779436(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.189853334G>C
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087360.1,