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rs863224860

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863224860(C;T)
Make rs863224860(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position189010732
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs863224860
ebirs863224860
HLIrs863224860
Exacrs863224860
Varsomers863224860
Maprs863224860
PheGenIrs863224860
hapmaprs863224860
1000 genomesrs863224860
hgdprs863224860
ensemblrs863224860
gopubmedrs863224860
geneviewrs863224860
scholarrs863224860
googlers863224860
pharmgkbrs863224860
gwascentralrs863224860
openSNPrs863224860
23andMers863224860
23andMe allrs863224860
SNP Nexus

SNPshotrs863224860
SNPdbers863224860
MSV3drs863224860
GWAS Ctlgrs863224860
Max Magnitude0
ClinVar
Risk rs863224860(T;T)
Alt rs863224860(T;T)
Reference rs863224860(C;C)
Significance Probable-Pathogenic
Disease Ehlers-Danlos syndrome Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 3 Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189875458C>T
CLNSRC
CLNACC RCV000195998.1,