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rs121912916

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912916(A;A)
Make rs121912916(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position189006207
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs121912916
ebirs121912916
HLIrs121912916
Exacrs121912916
Varsomers121912916
Maprs121912916
PheGenIrs121912916
hapmaprs121912916
1000 genomesrs121912916
hgdprs121912916
ensemblrs121912916
gopubmedrs121912916
geneviewrs121912916
scholarrs121912916
googlers121912916
pharmgkbrs121912916
gwascentralrs121912916
openSNPrs121912916
23andMers121912916
23andMe allrs121912916
SNP Nexus

SNPshotrs121912916
SNPdbers121912916
MSV3drs121912916
GWAS Ctlgrs121912916
Max Magnitude0
OMIM120180
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121912916(A;A)
Alt rs121912916(A;A)
Reference rs121912916(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.189870933G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1 OMIM Allelic Variant
CLNACC RCV000018755.28,