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rs80338764

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338764(C;C)
Make rs80338764(C;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position134824817
GeneCOL5A1
is asnp
is mentioned by
dbSNPrs80338764
ebirs80338764
HLIrs80338764
Exacrs80338764
Varsomers80338764
Maprs80338764
PheGenIrs80338764
hapmaprs80338764
1000 genomesrs80338764
hgdprs80338764
ensemblrs80338764
gopubmedrs80338764
geneviewrs80338764
scholarrs80338764
googlers80338764
pharmgkbrs80338764
gwascentralrs80338764
openSNPrs80338764
23andMers80338764
23andMe allrs80338764
SNP Nexus

SNPshotrs80338764
SNPdbers80338764
MSV3drs80338764
GWAS Ctlgrs80338764
Max Magnitude0
OMIM120215
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80338764(C;C)
Alt rs80338764(C;C)
Reference rs80338764(G;G)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL5A1
CLNDBN Ehlers-Danlos syndrome, classic type
Reversed 0
HGVS NC_000009.11:g.137716663G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000032107.3,