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rs121912928

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912928(A;A)
Make rs121912928(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position188996171
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs121912928
ebirs121912928
HLIrs121912928
Exacrs121912928
Varsomers121912928
Maprs121912928
PheGenIrs121912928
hapmaprs121912928
1000 genomesrs121912928
hgdprs121912928
ensemblrs121912928
gopubmedrs121912928
geneviewrs121912928
scholarrs121912928
googlers121912928
pharmgkbrs121912928
gwascentralrs121912928
openSNPrs121912928
23andMers121912928
23andMe allrs121912928
SNP Nexus

SNPshotrs121912928
SNPdbers121912928
MSV3drs121912928
GWAS Ctlgrs121912928
Max Magnitude0
OMIM120180
Desc
Variant0030
Relatedalso
ClinVar
Risk rs121912928(A;A)
Alt rs121912928(A;A)
Reference rs121912928(G;G)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1 MIR3606
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189860897G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1 OMIM Allelic Variant
CLNACC RCV000018751.28,