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rs672601354

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs672601354(-;-)
Make rs672601354(-;CT)
Make rs672601354(CT;CT)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position47976889
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs672601354
ebirs672601354
HLIrs672601354
Exacrs672601354
Varsomers672601354
Maprs672601354
PheGenIrs672601354
hapmaprs672601354
1000 genomesrs672601354
hgdprs672601354
ensemblrs672601354
gopubmedrs672601354
geneviewrs672601354
scholarrs672601354
googlers672601354
pharmgkbrs672601354
gwascentralrs672601354
openSNPrs672601354
23andMers672601354
23andMe allrs672601354
SNP Nexus

SNPshotrs672601354
SNPdbers672601354
MSV3drs672601354
GWAS Ctlgrs672601354
Max Magnitude0
ClinVar
Risk rs672601354(CT;CT)
Alt rs672601354(CT;CT)
Reference rs672601354(;)
Significance Pathogenic
Disease Stickler syndrome
Variation info
Gene COL2A1
CLNDBN Stickler syndrome
Reversed 1
HGVS NC_000012.11:g.48370672_48370673insAG
CLNSRC
CLNACC RCV000149457.1,