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rs121912898

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912898(A;A)
Make rs121912898(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position48000041
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs121912898
ebirs121912898
HLIrs121912898
Exacrs121912898
Varsomers121912898
Maprs121912898
PheGenIrs121912898
hapmaprs121912898
1000 genomesrs121912898
hgdprs121912898
ensemblrs121912898
gopubmedrs121912898
geneviewrs121912898
scholarrs121912898
googlers121912898
pharmgkbrs121912898
gwascentralrs121912898
openSNPrs121912898
23andMers121912898
23andMe allrs121912898
SNP Nexus

SNPshotrs121912898
SNPdbers121912898
MSV3drs121912898
GWAS Ctlgrs121912898
Max Magnitude0
OMIM120140
Desc
Variant0052
Relatedalso
ClinVar
Risk rs121912898(A;A)
Alt rs121912898(A;A)
Reference rs121912898(G;G)
Significance Pathogenic
Disease Stickler syndrome
Variation info
Gene COL2A1
CLNDBN Stickler syndrome, type I, nonsyndromic ocular
Reversed 1
HGVS NC_000012.11:g.48393824C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018946.27,