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rs113485686

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113485686(A;A)
Make rs113485686(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position189001554
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs113485686
ebirs113485686
HLIrs113485686
Exacrs113485686
Varsomers113485686
Maprs113485686
PheGenIrs113485686
hapmaprs113485686
1000 genomesrs113485686
hgdprs113485686
ensemblrs113485686
gopubmedrs113485686
geneviewrs113485686
scholarrs113485686
googlers113485686
pharmgkbrs113485686
gwascentralrs113485686
openSNPrs113485686
23andMers113485686
23andMe allrs113485686
SNP Nexus

SNPshotrs113485686
SNPdbers113485686
MSV3drs113485686
GWAS Ctlgrs113485686
Max Magnitude0
OMIM120180
Desc
Variant0002
Relatedalso
ClinVar
Risk rs113485686(A;A)
Alt rs113485686(A;A)
Reference rs113485686(G;G)
Significance Pathogenic
Disease Ehlers-Danlos syndrome Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4 variant Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189866280G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1 OMIM Allelic Variant
CLNACC RCV000018740.27, RCV000087507.1,