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rs587779597

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779597(G;T)
Make rs587779597(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188999286
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779597
ebirs587779597
HLIrs587779597
Exacrs587779597
Varsomers587779597
Maprs587779597
PheGenIrs587779597
hapmaprs587779597
1000 genomesrs587779597
hgdprs587779597
ensemblrs587779597
gopubmedrs587779597
geneviewrs587779597
scholarrs587779597
googlers587779597
pharmgkbrs587779597
gwascentralrs587779597
openSNPrs587779597
23andMers587779597
23andMe allrs587779597
SNP Nexus

SNPshotrs587779597
SNPdbers587779597
MSV3drs587779597
GWAS Ctlgrs587779597
Max Magnitude0
ClinVar
Risk rs587779597(T;T)
Alt rs587779597(T;T)
Reference rs587779597(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.189864012G>T
CLNSRC
CLNACC RCV000087549.1,