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rs587779598

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587779598(A;T)
Make rs587779598(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188991726
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779598
ebirs587779598
HLIrs587779598
Exacrs587779598
Varsomers587779598
Maprs587779598
PheGenIrs587779598
hapmaprs587779598
1000 genomesrs587779598
hgdprs587779598
ensemblrs587779598
gopubmedrs587779598
geneviewrs587779598
scholarrs587779598
googlers587779598
pharmgkbrs587779598
gwascentralrs587779598
openSNPrs587779598
23andMers587779598
23andMe allrs587779598
SNP Nexus

SNPshotrs587779598
SNPdbers587779598
MSV3drs587779598
GWAS Ctlgrs587779598
Max Magnitude0
ClinVar
Risk rs587779598(T;T)
Alt rs587779598(T;T)
Reference rs587779598(A;A)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189856452A>T
CLNSRC
CLNACC RCV000087550.1,