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rs765079080

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs765079080(G;G)
Make rs765079080(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position134795057
GeneCOL5A1
is asnp
is mentioned by
dbSNPrs765079080
ebirs765079080
HLIrs765079080
Exacrs765079080
Varsomers765079080
Maprs765079080
PheGenIrs765079080
hapmaprs765079080
1000 genomesrs765079080
hgdprs765079080
ensemblrs765079080
gopubmedrs765079080
geneviewrs765079080
scholarrs765079080
googlers765079080
pharmgkbrs765079080
gwascentralrs765079080
openSNPrs765079080
23andMers765079080
23andMe allrs765079080
SNP Nexus

SNPshotrs765079080
SNPdbers765079080
MSV3drs765079080
GWAS Ctlgrs765079080
Max Magnitude0
ClinVar
Risk rs765079080(G;G)
Alt rs765079080(G;G)
Reference rs765079080(T;T)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL5A1
CLNDBN Ehlers-Danlos syndrome, classic type
Reversed 0
HGVS NC_000009.11:g.137686903T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018728.28,