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rs587779661

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779661(G;T)
Make rs587779661(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188998267
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779661
ebirs587779661
HLIrs587779661
Exacrs587779661
Varsomers587779661
Maprs587779661
PheGenIrs587779661
hapmaprs587779661
1000 genomesrs587779661
hgdprs587779661
ensemblrs587779661
gopubmedrs587779661
geneviewrs587779661
scholarrs587779661
googlers587779661
pharmgkbrs587779661
gwascentralrs587779661
openSNPrs587779661
23andMers587779661
23andMe allrs587779661
SNP Nexus

SNPshotrs587779661
SNPdbers587779661
MSV3drs587779661
GWAS Ctlgrs587779661
Max Magnitude0
ClinVar
Risk rs587779661(T;T)
Alt rs587779661(T;T)
Reference rs587779661(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.189862993G>T
CLNSRC
CLNACC RCV000087644.1,