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rs587779502

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587779502(A;T)
Make rs587779502(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189008033
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779502
ebirs587779502
HLIrs587779502
Exacrs587779502
Varsomers587779502
Maprs587779502
PheGenIrs587779502
hapmaprs587779502
1000 genomesrs587779502
hgdprs587779502
ensemblrs587779502
gopubmedrs587779502
geneviewrs587779502
scholarrs587779502
googlers587779502
pharmgkbrs587779502
gwascentralrs587779502
openSNPrs587779502
23andMers587779502
23andMe allrs587779502
SNP Nexus

SNPshotrs587779502
SNPdbers587779502
MSV3drs587779502
GWAS Ctlgrs587779502
Max Magnitude0
ClinVar
Risk rs587779502(G,T;G,T)
Alt rs587779502(G,T;G,T)
Reference rs587779502(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.189872759A>G; NC_000002.11:g.189872759A>T
CLNSRC
CLNACC RCV000087660.1, RCV000087437.1,