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rs140950220

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs140950220(C;C)
Make rs140950220(C;G)
ReferenceGRCh38 38.1/142
Chromosome9
Position114195977
GeneCOL27A1
is asnp
is mentioned by
dbSNPrs140950220
ebirs140950220
HLIrs140950220
Exacrs140950220
Varsomers140950220
Maprs140950220
PheGenIrs140950220
hapmaprs140950220
1000 genomesrs140950220
hgdprs140950220
ensemblrs140950220
gopubmedrs140950220
geneviewrs140950220
scholarrs140950220
googlers140950220
pharmgkbrs140950220
gwascentralrs140950220
openSNPrs140950220
23andMers140950220
23andMe allrs140950220
SNP Nexus

SNPshotrs140950220
SNPdbers140950220
MSV3drs140950220
GWAS Ctlgrs140950220
Max Magnitude0
ClinVar
Risk rs140950220(C;C)
Alt rs140950220(C;C)
Reference rs140950220(G;G)
Significance Pathogenic
Disease Steel syndrome
Variation info
Gene COL27A1
CLNDBN Steel syndrome
Reversed 0
HGVS NC_000009.11:g.116958257G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000132771.3,