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rs878853978

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 5.5 Ehlers-Danlos Syndrome (EDS) classic type
(G;G) 0 common in clinvar


Make rs878853978(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position189045800
GeneCOL5A2
is asnp
is mentioned by
dbSNPrs878853978
dbSNP (classic)rs878853978
ClinGenrs878853978
ebirs878853978
HLIrs878853978
Exacrs878853978
Gnomadrs878853978
Varsomers878853978
LitVarrs878853978
Maprs878853978
PheGenIrs878853978
Biobankrs878853978
1000 genomesrs878853978
hgdprs878853978
ensemblrs878853978
geneviewrs878853978
scholarrs878853978
googlers878853978
pharmgkbrs878853978
gwascentralrs878853978
openSNPrs878853978
23andMers878853978
23andMe allrs878853978
SNPshotrs878853978
SNPdbers878853978
MSV3drs878853978
GWAS Ctlgrs878853978
Max Magnitude5.5
ClinVar
Risk rs878853978(A;A)
Alt rs878853978(A;A)
Reference Rs878853978(G;G)
Significance Probable-Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL5A2
CLNDBN Ehlers-Danlos syndrome, classic type
Reversed 1
HGVS NC_000002.11:g.189910526C>T
CLNSRC
CLNACC RCV000231765.2,