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rs777625241

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs777625241(C;T)
Make rs777625241(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position134700037
GeneCOL5A1
is asnp
is mentioned by
dbSNPrs777625241
ebirs777625241
HLIrs777625241
Exacrs777625241
Varsomers777625241
Maprs777625241
PheGenIrs777625241
hapmaprs777625241
1000 genomesrs777625241
hgdprs777625241
ensemblrs777625241
gopubmedrs777625241
geneviewrs777625241
scholarrs777625241
googlers777625241
pharmgkbrs777625241
gwascentralrs777625241
openSNPrs777625241
23andMers777625241
23andMe allrs777625241
SNP Nexus

SNPshotrs777625241
SNPdbers777625241
MSV3drs777625241
GWAS Ctlgrs777625241
Max Magnitude0
ClinVar
Risk rs777625241(T;T)
Alt rs777625241(T;T)
Reference rs777625241(C;C)
Significance Probable-Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL5A1
CLNDBN Ehlers-Danlos syndrome, classic type
Reversed 0
HGVS NC_000009.11:g.137591883C>T
CLNSRC Baylor College of Medicine
CLNACC RCV000191074.1,