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rs587779455

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587779455(-;-)
Make rs587779455(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188990328
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779455
ebirs587779455
HLIrs587779455
Exacrs587779455
Varsomers587779455
Maprs587779455
PheGenIrs587779455
hapmaprs587779455
1000 genomesrs587779455
hgdprs587779455
ensemblrs587779455
gopubmedrs587779455
geneviewrs587779455
scholarrs587779455
googlers587779455
pharmgkbrs587779455
gwascentralrs587779455
openSNPrs587779455
23andMers587779455
23andMe allrs587779455
SNP Nexus

SNPshotrs587779455
SNPdbers587779455
MSV3drs587779455
GWAS Ctlgrs587779455
Max Magnitude0
ClinVar
Risk rs587779455(;)
Alt rs587779455(;)
Reference rs587779455(A;A)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189855054delA
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087383.1,