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rs312262904

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs312262904(A;A)
Make rs312262904(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position18783126
GeneCOMP
is asnp
is mentioned by
dbSNPrs312262904
ebirs312262904
HLIrs312262904
Exacrs312262904
Varsomers312262904
Maprs312262904
PheGenIrs312262904
hapmaprs312262904
1000 genomesrs312262904
hgdprs312262904
ensemblrs312262904
gopubmedrs312262904
geneviewrs312262904
scholarrs312262904
googlers312262904
pharmgkbrs312262904
gwascentralrs312262904
openSNPrs312262904
23andMers312262904
23andMe allrs312262904
SNP Nexus

SNPshotrs312262904
SNPdbers312262904
MSV3drs312262904
GWAS Ctlgrs312262904
Max Magnitude0
ClinVar
Risk rs312262904(A;A)
Alt rs312262904(A;A)
Reference rs312262904(G;G)
Significance Pathogenic
Disease Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Variation info
Gene COMP
CLNDBN Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Reversed 1
HGVS NC_000019.9:g.18893936C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000033889.2,