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

rs587779699

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779699(A;A)
Make rs587779699(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188998312
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779699
ebirs587779699
HLIrs587779699
Exacrs587779699
Varsomers587779699
Maprs587779699
PheGenIrs587779699
hapmaprs587779699
1000 genomesrs587779699
hgdprs587779699
ensemblrs587779699
gopubmedrs587779699
geneviewrs587779699
scholarrs587779699
googlers587779699
pharmgkbrs587779699
gwascentralrs587779699
openSNPrs587779699
23andMers587779699
23andMe allrs587779699
SNP Nexus

SNPshotrs587779699
SNPdbers587779699
MSV3drs587779699
GWAS Ctlgrs587779699
Max Magnitude0
ClinVar
Risk rs587779699(A;A)
Alt rs587779699(A;A)
Reference rs587779699(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.189863038G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087698.1,