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rs606231376

From SNPedia

Orientationminus
Geno Mag Summary
(CGAGGTGA;CGAGGTGA) 0 common in clinvar
Make rs606231376(-;-)
Make rs606231376(-;CGAGGTGA)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position40309934
GeneCOL9A2
is asnp
is mentioned by
dbSNPrs606231376
ebirs606231376
HLIrs606231376
Exacrs606231376
Varsomers606231376
Maprs606231376
PheGenIrs606231376
hapmaprs606231376
1000 genomesrs606231376
hgdprs606231376
ensemblrs606231376
gopubmedrs606231376
geneviewrs606231376
scholarrs606231376
googlers606231376
pharmgkbrs606231376
gwascentralrs606231376
openSNPrs606231376
23andMers606231376
23andMe allrs606231376
SNP Nexus

SNPshotrs606231376
SNPdbers606231376
MSV3drs606231376
GWAS Ctlgrs606231376
Max Magnitude0
ClinVar
Risk rs606231376(;)
Alt rs606231376(;)
Reference rs606231376(CGAGGTGA;CGAGGTGA)
Significance Pathogenic
Disease Stickler syndrome
Variation info
Gene COL9A2
CLNDBN Stickler syndrome, type 5
Reversed 1
HGVS NC_000001.10:g.40775606_40775613delTCACCTCG
CLNSRC OMIM Allelic Variant
CLNACC RCV000022493.26,