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rs121912922

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6.5 Ehlers-Danlos Syndrome (EDS) type 4
Make rs121912922(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position189004312
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs121912922
dbSNP (classic)rs121912922
ClinGenrs121912922
ebirs121912922
HLIrs121912922
Exacrs121912922
Gnomadrs121912922
Varsomers121912922
LitVarrs121912922
Maprs121912922
PheGenIrs121912922
Biobankrs121912922
1000 genomesrs121912922
hgdprs121912922
ensemblrs121912922
geneviewrs121912922
scholarrs121912922
googlers121912922
pharmgkbrs121912922
gwascentralrs121912922
openSNPrs121912922
23andMers121912922
SNPshotrs121912922
SNPdbers121912922
MSV3drs121912922
GWAS Ctlgrs121912922
Max Magnitude6.5
OMIM120180
Desc
Variant0023
Relatedalso
ClinVar
Risk rs121912922(T;T)
Alt rs121912922(T;T)
Reference Rs121912922(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.189869038G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000018764.28,