Have questions? Visit https://www.reddit.com/r/SNPedia

rs121912951

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912951(C;T)
Make rs121912951(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position33167822
GeneCOL11A2
is asnp
is mentioned by
dbSNPrs121912951
ebirs121912951
HLIrs121912951
Exacrs121912951
Varsomers121912951
Maprs121912951
PheGenIrs121912951
hapmaprs121912951
1000 genomesrs121912951
hgdprs121912951
ensemblrs121912951
gopubmedrs121912951
geneviewrs121912951
scholarrs121912951
googlers121912951
pharmgkbrs121912951
gwascentralrs121912951
openSNPrs121912951
23andMers121912951
23andMe allrs121912951
SNP Nexus

SNPshotrs121912951
SNPdbers121912951
MSV3drs121912951
GWAS Ctlgrs121912951
Max Magnitude0
OMIM120290
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121912951(T;T)
Alt rs121912951(T;T)
Reference rs121912951(C;C)
Significance Pathogenic
Disease Weissenbacher-Zweymuller syndrome
Variation info
Gene COL11A2
CLNDBN Weissenbacher-Zweymuller syndrome, autosomal recessive
Reversed 1
HGVS NC_000006.11:g.33135599G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018666.23,