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

rs587779497

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587779497(G;G)
Make rs587779497(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188989451
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779497
ebirs587779497
HLIrs587779497
Exacrs587779497
Varsomers587779497
Maprs587779497
PheGenIrs587779497
hapmaprs587779497
1000 genomesrs587779497
hgdprs587779497
ensemblrs587779497
gopubmedrs587779497
geneviewrs587779497
scholarrs587779497
googlers587779497
pharmgkbrs587779497
gwascentralrs587779497
openSNPrs587779497
23andMers587779497
23andMe allrs587779497
SNP Nexus

SNPshotrs587779497
SNPdbers587779497
MSV3drs587779497
GWAS Ctlgrs587779497
Max Magnitude0
ClinVar
Risk rs587779497(A,G;A,G)
Alt rs587779497(A,G;A,G)
Reference rs587779497(T;T)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189854177T>A; NC_000002.11:g.189854177T>G
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087505.1, RCV000087431.1,