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rs121912931

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912931(C;T)
Make rs121912931(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position70281033
GeneCOL9A1
is asnp
is mentioned by
dbSNPrs121912931
ebirs121912931
HLIrs121912931
Exacrs121912931
Varsomers121912931
Maprs121912931
PheGenIrs121912931
hapmaprs121912931
1000 genomesrs121912931
hgdprs121912931
ensemblrs121912931
gopubmedrs121912931
geneviewrs121912931
scholarrs121912931
googlers121912931
pharmgkbrs121912931
gwascentralrs121912931
openSNPrs121912931
23andMers121912931
23andMe allrs121912931
SNP Nexus

SNPshotrs121912931
SNPdbers121912931
MSV3drs121912931
GWAS Ctlgrs121912931
Max Magnitude0
OMIM120210
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121912931(T;T)
Alt rs121912931(T;T)
Reference rs121912931(C;C)
Significance Pathogenic
Disease Stickler syndrome
Variation info
Gene COL9A1
CLNDBN Stickler syndrome, type 4
Reversed 1
HGVS NC_000006.11:g.70990736G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018735.25,