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rs121912922

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912922(G;T)
Make rs121912922(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position189004312
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs121912922
ebirs121912922
HLIrs121912922
Exacrs121912922
Varsomers121912922
Maprs121912922
PheGenIrs121912922
hapmaprs121912922
1000 genomesrs121912922
hgdprs121912922
ensemblrs121912922
gopubmedrs121912922
geneviewrs121912922
scholarrs121912922
googlers121912922
pharmgkbrs121912922
gwascentralrs121912922
openSNPrs121912922
23andMers121912922
23andMe allrs121912922
SNP Nexus

SNPshotrs121912922
SNPdbers121912922
MSV3drs121912922
GWAS Ctlgrs121912922
Max Magnitude0
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
CLNACC RCV000018764.27,