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rs121912944

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912944(G;T)
Make rs121912944(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position102962750
GeneCOL11A1
is asnp
is mentioned by
dbSNPrs121912944
ebirs121912944
HLIrs121912944
Exacrs121912944
Varsomers121912944
Maprs121912944
PheGenIrs121912944
hapmaprs121912944
1000 genomesrs121912944
hgdprs121912944
ensemblrs121912944
gopubmedrs121912944
geneviewrs121912944
scholarrs121912944
googlers121912944
pharmgkbrs121912944
gwascentralrs121912944
openSNPrs121912944
23andMers121912944
23andMe allrs121912944
SNP Nexus

SNPshotrs121912944
SNPdbers121912944
MSV3drs121912944
GWAS Ctlgrs121912944
Max Magnitude0
OMIM120280
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121912944(T;T)
Alt rs121912944(T;T)
Reference rs121912944(G;G)
Significance Pathogenic
Disease Marshall/Stickler syndrome
Variation info
Gene COL11A1
CLNDBN Marshall/Stickler syndrome
Reversed 1
HGVS NC_000001.10:g.103428306C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018671.28,