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

rs587779654

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779654(A;A)
Make rs587779654(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189004303
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779654
ebirs587779654
HLIrs587779654
Exacrs587779654
Varsomers587779654
Maprs587779654
PheGenIrs587779654
hapmaprs587779654
1000 genomesrs587779654
hgdprs587779654
ensemblrs587779654
gopubmedrs587779654
geneviewrs587779654
scholarrs587779654
googlers587779654
pharmgkbrs587779654
gwascentralrs587779654
openSNPrs587779654
23andMers587779654
23andMe allrs587779654
SNP Nexus

SNPshotrs587779654
SNPdbers587779654
MSV3drs587779654
GWAS Ctlgrs587779654
Max Magnitude0
ClinVar
Risk rs587779654(A,T;A,T)
Alt rs587779654(A,T;A,T)
Reference rs587779654(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.189869029G>A; NC_000002.11:g.189869029G>T
CLNSRC
CLNACC RCV000087635.1, RCV000087684.1,