Have questions? Visit https://www.reddit.com/r/SNPedia

rs587779712

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587779712(-;-)
Make rs587779712(-;AGGG)
Make rs587779712(AGGG;AGGG)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189008973
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779712
ebirs587779712
HLIrs587779712
Exacrs587779712
Varsomers587779712
Maprs587779712
PheGenIrs587779712
hapmaprs587779712
1000 genomesrs587779712
hgdprs587779712
ensemblrs587779712
gopubmedrs587779712
geneviewrs587779712
scholarrs587779712
googlers587779712
pharmgkbrs587779712
gwascentralrs587779712
openSNPrs587779712
23andMers587779712
23andMe allrs587779712
SNP Nexus

SNPshotrs587779712
SNPdbers587779712
MSV3drs587779712
GWAS Ctlgrs587779712
Max Magnitude0
ClinVar
Risk rs587779712(AGGG;AGGG)
Alt rs587779712(AGGG;AGGG)
Reference rs587779712(;)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189873699_189873700insAGGG
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087720.1,