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rs750995470

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs750995470(C;T)
Make rs750995470(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position33166512
GeneCOL11A2
is asnp
is mentioned by
dbSNPrs750995470
ebirs750995470
HLIrs750995470
Exacrs750995470
Varsomers750995470
Maprs750995470
PheGenIrs750995470
hapmaprs750995470
1000 genomesrs750995470
hgdprs750995470
ensemblrs750995470
gopubmedrs750995470
geneviewrs750995470
scholarrs750995470
googlers750995470
pharmgkbrs750995470
gwascentralrs750995470
openSNPrs750995470
23andMers750995470
23andMe allrs750995470
SNP Nexus

SNPshotrs750995470
SNPdbers750995470
MSV3drs750995470
GWAS Ctlgrs750995470
Max Magnitude0
ClinVar
Risk rs750995470(T;T)
Alt rs750995470(T;T)
Reference rs750995470(C;C)
Significance Pathogenic
Disease Stickler syndrome
Variation info
Gene COL11A2
CLNDBN Stickler syndrome, type 3
Reversed 0
HGVS NC_000006.11:g.33134289C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018657.28,