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rs587779527

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587779527(C;T)
Make rs587779527(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188997189
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779527
ebirs587779527
HLIrs587779527
Exacrs587779527
Varsomers587779527
Maprs587779527
PheGenIrs587779527
hapmaprs587779527
1000 genomesrs587779527
hgdprs587779527
ensemblrs587779527
gopubmedrs587779527
geneviewrs587779527
scholarrs587779527
googlers587779527
pharmgkbrs587779527
gwascentralrs587779527
openSNPrs587779527
23andMers587779527
23andMe allrs587779527
SNP Nexus

SNPshotrs587779527
SNPdbers587779527
MSV3drs587779527
GWAS Ctlgrs587779527
Max Magnitude0
ClinVar
Risk rs587779527(T;T)
Alt rs587779527(T;T)
Reference rs587779527(C;C)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189861915C>T
CLNSRC
CLNACC RCV000087466.1,