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rs121912872

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912872(A;A)
Make rs121912872(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position47994440
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs121912872
ebirs121912872
HLIrs121912872
Exacrs121912872
Varsomers121912872
Maprs121912872
PheGenIrs121912872
hapmaprs121912872
1000 genomesrs121912872
hgdprs121912872
ensemblrs121912872
gopubmedrs121912872
geneviewrs121912872
scholarrs121912872
googlers121912872
pharmgkbrs121912872
gwascentralrs121912872
openSNPrs121912872
23andMers121912872
23andMe allrs121912872
SNP Nexus

SNPshotrs121912872
SNPdbers121912872
MSV3drs121912872
GWAS Ctlgrs121912872
Max Magnitude0
OMIM120140
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121912872(A;A)
Alt rs121912872(A;A)
Reference rs121912872(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.48388223C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018908.23,