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rs121912919

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912919(A;A)
Make rs121912919(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position188991678
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs121912919
ebirs121912919
HLIrs121912919
Exacrs121912919
Varsomers121912919
Maprs121912919
PheGenIrs121912919
hapmaprs121912919
1000 genomesrs121912919
hgdprs121912919
ensemblrs121912919
gopubmedrs121912919
geneviewrs121912919
scholarrs121912919
googlers121912919
pharmgkbrs121912919
gwascentralrs121912919
openSNPrs121912919
23andMers121912919
23andMe allrs121912919
SNP Nexus

SNPshotrs121912919
SNPdbers121912919
MSV3drs121912919
GWAS Ctlgrs121912919
Max Magnitude0
OMIM120180
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121912919(A;A)
Alt rs121912919(A;A)
Reference rs121912919(G;G)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189856404G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087368.1,