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rs121912877

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912877(A;A)
Make rs121912877(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position47993825
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs121912877
ebirs121912877
HLIrs121912877
Exacrs121912877
Varsomers121912877
Maprs121912877
PheGenIrs121912877
hapmaprs121912877
1000 genomesrs121912877
hgdprs121912877
ensemblrs121912877
gopubmedrs121912877
geneviewrs121912877
scholarrs121912877
googlers121912877
pharmgkbrs121912877
gwascentralrs121912877
openSNPrs121912877
23andMers121912877
23andMe allrs121912877
SNP Nexus

SNPshotrs121912877
SNPdbers121912877
MSV3drs121912877
GWAS Ctlgrs121912877
Max Magnitude0
OMIM120140
Desc
Variant0020
Relatedalso
ClinVar
Risk rs121912877(A;A)
Alt rs121912877(A;A)
Reference rs121912877(G;G)
Significance Pathogenic
Disease Kniest dysplasia Stickler syndrome type 1
Variation info
Gene COL2A1
CLNDBN Kniest dysplasia Stickler syndrome type 1
Reversed 1
HGVS NC_000012.11:g.48387608C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018914.27, RCV000174720.1,