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rs672601355

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs672601355(-;-)
Make rs672601355(-;TCCTGGGTC)
Make rs672601355(TCCTGGGTC;TCCTGGGTC)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position47987632
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs672601355
ebirs672601355
HLIrs672601355
Exacrs672601355
Varsomers672601355
Maprs672601355
PheGenIrs672601355
hapmaprs672601355
1000 genomesrs672601355
hgdprs672601355
ensemblrs672601355
gopubmedrs672601355
geneviewrs672601355
scholarrs672601355
googlers672601355
pharmgkbrs672601355
gwascentralrs672601355
openSNPrs672601355
23andMers672601355
23andMe allrs672601355
SNP Nexus

SNPshotrs672601355
SNPdbers672601355
MSV3drs672601355
GWAS Ctlgrs672601355
Max Magnitude0
ClinVar
Risk rs672601355(TCCTGGGTC;TCCTGGGTC)
Alt rs672601355(TCCTGGGTC;TCCTGGGTC)
Reference rs672601355(;)
Significance Pathogenic
Disease Stickler syndrome
Variation info
Gene COL2A1
CLNDBN Stickler syndrome
Reversed 1
HGVS NC_000012.11:g.48381416_48381424dupGACCCAGGA
CLNSRC
CLNACC RCV000149458.1,