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rs121912880

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 5 Spondylometaphyseal dysplasia possible
(G;G) 0 common in clinvar
(G;T) 5 Spondylometaphyseal dysplasia possible
Make rs121912880(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position47986353
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs121912880
dbSNP (classic)rs121912880
ClinGenrs121912880
ebirs121912880
HLIrs121912880
Exacrs121912880
Gnomadrs121912880
Varsomers121912880
LitVarrs121912880
Maprs121912880
PheGenIrs121912880
Biobankrs121912880
1000 genomesrs121912880
hgdprs121912880
ensemblrs121912880
geneviewrs121912880
scholarrs121912880
googlers121912880
pharmgkbrs121912880
gwascentralrs121912880
openSNPrs121912880
23andMers121912880
SNPshotrs121912880
SNPdbers121912880
MSV3drs121912880
GWAS Ctlgrs121912880
Max Magnitude5

aka c.1510G>A (p.Gly504Ser or G504S), also c.1510G>T (p.Gly504Cys or G504C); both are considered in ClinVar as dominantly inherited mutations pathogenic for Spondylometaphyseal dysplasia and/or Stickler syndrome type I

OMIM120140
Desc
Variant0027
Relatedalso
ClinVar
Risk rs121912880(A;A) rs121912880(T;T)
Alt rs121912880(A;A) rs121912880(T;T)
Reference Rs121912880(G;G)
Significance Pathogenic
Disease Spondyloepimetaphyseal dysplasia Strudwick type Stickler syndrome type 1 Spondyloepiphyseal dysplasia congenita
Variation info
Gene COL2A1
CLNDBN Spondyloepimetaphyseal dysplasia Strudwick type Stickler syndrome type 1 Spondyloepiphyseal dysplasia congenita
Reversed 1
HGVS NC_000012.11:g.48380136C>A; NC_000012.11:g.48380136C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000018920.28, RCV000380315.1, RCV000176384.1, RCV000176385.1, RCV000282433.1,