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rs121912921

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912921(A;A)
Make rs121912921(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position188998693
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs121912921
ebirs121912921
HLIrs121912921
Exacrs121912921
Varsomers121912921
Maprs121912921
PheGenIrs121912921
hapmaprs121912921
1000 genomesrs121912921
hgdprs121912921
ensemblrs121912921
gopubmedrs121912921
geneviewrs121912921
scholarrs121912921
googlers121912921
pharmgkbrs121912921
gwascentralrs121912921
openSNPrs121912921
23andMers121912921
23andMe allrs121912921
SNP Nexus

SNPshotrs121912921
SNPdbers121912921
MSV3drs121912921
GWAS Ctlgrs121912921
Max Magnitude0
OMIM120180
Desc
Variant0022
Relatedalso
ClinVar
Risk rs121912921(A;A)
Alt rs121912921(A;A)
Reference rs121912921(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.189863419G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1 OMIM Allelic Variant
CLNACC RCV000018763.28,