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rs312262901

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs312262901(A;G)
Make rs312262901(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position18785050
GeneCOMP
is asnp
is mentioned by
dbSNPrs312262901
ebirs312262901
HLIrs312262901
Exacrs312262901
Varsomers312262901
Maprs312262901
PheGenIrs312262901
hapmaprs312262901
1000 genomesrs312262901
hgdprs312262901
ensemblrs312262901
gopubmedrs312262901
geneviewrs312262901
scholarrs312262901
googlers312262901
pharmgkbrs312262901
gwascentralrs312262901
openSNPrs312262901
23andMers312262901
23andMe allrs312262901
SNP Nexus

SNPshotrs312262901
SNPdbers312262901
MSV3drs312262901
GWAS Ctlgrs312262901
Max Magnitude0
ClinVar
Risk rs312262901(G;G)
Alt rs312262901(G;G)
Reference rs312262901(A;A)
Significance Pathogenic
Disease Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Variation info
Gene COMP
CLNDBN Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Reversed 1
HGVS NC_000019.9:g.18895860T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000033888.2,