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rs121912913

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912913(A;A)
Make rs121912913(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position189004302
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs121912913
ebirs121912913
HLIrs121912913
Exacrs121912913
Varsomers121912913
Maprs121912913
PheGenIrs121912913
hapmaprs121912913
1000 genomesrs121912913
hgdprs121912913
ensemblrs121912913
gopubmedrs121912913
geneviewrs121912913
scholarrs121912913
googlers121912913
pharmgkbrs121912913
gwascentralrs121912913
openSNPrs121912913
23andMers121912913
23andMe allrs121912913
SNP Nexus

SNPshotrs121912913
SNPdbers121912913
MSV3drs121912913
GWAS Ctlgrs121912913
Max Magnitude0
OMIM120180
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121912913(A,T;A,T)
Alt rs121912913(A,T;A,T)
Reference rs121912913(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.189869028G>T
CLNSRC ClinVar
CLNACC RCV000087396.1,