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

rs587779553

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779553(G;T)
Make rs587779553(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189008107
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779553
ebirs587779553
HLIrs587779553
Exacrs587779553
Varsomers587779553
Maprs587779553
PheGenIrs587779553
hapmaprs587779553
1000 genomesrs587779553
hgdprs587779553
ensemblrs587779553
gopubmedrs587779553
geneviewrs587779553
scholarrs587779553
googlers587779553
pharmgkbrs587779553
gwascentralrs587779553
openSNPrs587779553
23andMers587779553
23andMe allrs587779553
SNP Nexus

SNPshotrs587779553
SNPdbers587779553
MSV3drs587779553
GWAS Ctlgrs587779553
Max Magnitude0
ClinVar
Risk rs587779553(A,C,T;A,C,T)
Alt rs587779553(A,C,T;A,C,T)
Reference rs587779553(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.189872833G>A; NC_000002.11:g.189872833G>C; NC_000002.11:g.189872833G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087640.1, RCV000087704.1, RCV000087494.1,