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rs121912943

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912943(G;T)
Make rs121912943(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position103004633
GeneCOL11A1
is asnp
is mentioned by
dbSNPrs121912943
ebirs121912943
HLIrs121912943
Exacrs121912943
Varsomers121912943
Maprs121912943
PheGenIrs121912943
hapmaprs121912943
1000 genomesrs121912943
hgdprs121912943
ensemblrs121912943
gopubmedrs121912943
geneviewrs121912943
scholarrs121912943
googlers121912943
pharmgkbrs121912943
gwascentralrs121912943
openSNPrs121912943
23andMers121912943
23andMe allrs121912943
SNP Nexus

SNPshotrs121912943
SNPdbers121912943
MSV3drs121912943
GWAS Ctlgrs121912943
Max Magnitude0
OMIM120280
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121912943(T;T)
Alt rs121912943(T;T)
Reference rs121912943(G;G)
Significance Pathogenic
Disease Stickler syndrome
Variation info
Gene COL11A1
CLNDBN Stickler syndrome, type 2
Reversed 1
HGVS NC_000001.10:g.103470189C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018669.28,