Have questions? Visit https://www.reddit.com/r/SNPedia

rs869312907

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869312907(A;A)
Make rs869312907(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position47995910
GeneCOL2A1, LOC105369751
is asnp
is mentioned by
dbSNPrs869312907
ebirs869312907
HLIrs869312907
Exacrs869312907
Varsomers869312907
Maprs869312907
PheGenIrs869312907
hapmaprs869312907
1000 genomesrs869312907
hgdprs869312907
ensemblrs869312907
gopubmedrs869312907
geneviewrs869312907
scholarrs869312907
googlers869312907
pharmgkbrs869312907
gwascentralrs869312907
openSNPrs869312907
23andMers869312907
23andMe allrs869312907
SNP Nexus

SNPshotrs869312907
SNPdbers869312907
MSV3drs869312907
GWAS Ctlgrs869312907
Max Magnitude0
ClinVar
Risk rs869312907(A;A)
Alt rs869312907(A;A)
Reference rs869312907(G;G)
Significance Pathogenic
Disease Spondyloepiphyseal dysplasia
Variation info
Gene COL2A1
CLNDBN Spondyloepiphyseal dysplasia, stanescu type
Reversed 1
HGVS NC_000012.11:g.48389693C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000210454.2,