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rs397514455

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514455(C;C)
Make rs397514455(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position102946884
GeneCOL11A1
is asnp
is mentioned by
dbSNPrs397514455
ebirs397514455
HLIrs397514455
Exacrs397514455
Varsomers397514455
Maprs397514455
PheGenIrs397514455
hapmaprs397514455
1000 genomesrs397514455
hgdprs397514455
ensemblrs397514455
gopubmedrs397514455
geneviewrs397514455
scholarrs397514455
googlers397514455
pharmgkbrs397514455
gwascentralrs397514455
openSNPrs397514455
23andMers397514455
23andMe allrs397514455
SNP Nexus

SNPshotrs397514455
SNPdbers397514455
MSV3drs397514455
GWAS Ctlgrs397514455
Max Magnitude0
ClinVar
Risk rs397514455(C;C)
Alt rs397514455(C;C)
Reference rs397514455(G;G)
Significance Pathogenic
Disease Fibrochondrogenesis
Variation info
Gene COL11A1
CLNDBN Fibrochondrogenesis
Reversed 1
HGVS NC_000001.10:g.103412440C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000022495.24,