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rs121912915

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912915(G;T)
Make rs121912915(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position189006965
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs121912915
ebirs121912915
HLIrs121912915
Exacrs121912915
Varsomers121912915
Maprs121912915
PheGenIrs121912915
hapmaprs121912915
1000 genomesrs121912915
hgdprs121912915
ensemblrs121912915
gopubmedrs121912915
geneviewrs121912915
scholarrs121912915
googlers121912915
pharmgkbrs121912915
gwascentralrs121912915
openSNPrs121912915
23andMers121912915
23andMe allrs121912915
SNP Nexus

SNPshotrs121912915
SNPdbers121912915
MSV3drs121912915
GWAS Ctlgrs121912915
Max Magnitude0
OMIM120180
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121912915(T;T)
Alt rs121912915(T;T)
Reference rs121912915(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.189871691G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1 OMIM Allelic Variant
CLNACC RCV000018749.28,