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rs121912896

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912896(A;A)
Make rs121912896(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position48000070
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs121912896
ebirs121912896
HLIrs121912896
Exacrs121912896
Varsomers121912896
Maprs121912896
PheGenIrs121912896
hapmaprs121912896
1000 genomesrs121912896
hgdprs121912896
ensemblrs121912896
gopubmedrs121912896
geneviewrs121912896
scholarrs121912896
googlers121912896
pharmgkbrs121912896
gwascentralrs121912896
openSNPrs121912896
23andMers121912896
23andMe allrs121912896
SNP Nexus

SNPshotrs121912896
SNPdbers121912896
MSV3drs121912896
GWAS Ctlgrs121912896
Max Magnitude0
OMIM120140
Desc
Variant0050
Relatedalso
ClinVar
Risk rs121912896(A;A)
Alt rs121912896(A;A)
Reference rs121912896(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.48393853C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018944.27,