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rs587779575

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587779575(A;T)
Make rs587779575(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188997698
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779575
ebirs587779575
HLIrs587779575
Exacrs587779575
Varsomers587779575
Maprs587779575
PheGenIrs587779575
hapmaprs587779575
1000 genomesrs587779575
hgdprs587779575
ensemblrs587779575
gopubmedrs587779575
geneviewrs587779575
scholarrs587779575
googlers587779575
pharmgkbrs587779575
gwascentralrs587779575
openSNPrs587779575
23andMers587779575
23andMe allrs587779575
SNP Nexus

SNPshotrs587779575
SNPdbers587779575
MSV3drs587779575
GWAS Ctlgrs587779575
Max Magnitude0
ClinVar
Risk rs587779575(G,T;G,T)
Alt rs587779575(G,T;G,T)
Reference rs587779575(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.189862424A>G; NC_000002.11:g.189862424A>T
CLNSRC
CLNACC RCV000087662.1, RCV000087524.1,