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rs121912897

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912897(A;A)
Make rs121912897(A;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position48000019
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs121912897
ebirs121912897
HLIrs121912897
Exacrs121912897
Varsomers121912897
Maprs121912897
PheGenIrs121912897
hapmaprs121912897
1000 genomesrs121912897
hgdprs121912897
ensemblrs121912897
gopubmedrs121912897
geneviewrs121912897
scholarrs121912897
googlers121912897
pharmgkbrs121912897
gwascentralrs121912897
openSNPrs121912897
23andMers121912897
23andMe allrs121912897
SNP Nexus

SNPshotrs121912897
SNPdbers121912897
MSV3drs121912897
GWAS Ctlgrs121912897
Max Magnitude0
OMIM120140
Desc
Variant0051
Relatedalso
ClinVar
Risk rs121912897(A,T;A,T)
Alt rs121912897(A,T;A,T)
Reference rs121912897(C;C)
Significance Pathogenic
Disease Stickler syndrome
Variation info
Gene COL2A1
CLNDBN Stickler syndrome, type I, nonsyndromic ocular
Reversed 1
HGVS NC_000012.11:g.48393802G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018945.27,