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rs312262900

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs312262900(C;T)
Make rs312262900(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position18785056
GeneCOMP
is asnp
is mentioned by
dbSNPrs312262900
ebirs312262900
HLIrs312262900
Exacrs312262900
Varsomers312262900
Maprs312262900
PheGenIrs312262900
hapmaprs312262900
1000 genomesrs312262900
hgdprs312262900
ensemblrs312262900
gopubmedrs312262900
geneviewrs312262900
scholarrs312262900
googlers312262900
pharmgkbrs312262900
gwascentralrs312262900
openSNPrs312262900
23andMers312262900
23andMe allrs312262900
SNP Nexus

SNPshotrs312262900
SNPdbers312262900
MSV3drs312262900
GWAS Ctlgrs312262900
Max Magnitude0
ClinVar
Risk rs312262900(A,G,T;A,G,T)
Alt rs312262900(A,G,T;A,G,T)
Reference rs312262900(C;C)
Significance Pathogenic
Disease Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Multiple epiphyseal dysplasia 1
Variation info
Gene COMP
CLNDBN Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Multiple epiphyseal dysplasia 1
Reversed 1
HGVS NC_000019.9:g.18895866G>A; NC_000019.9:g.18895866G>C; NC_000019.9:g.18895866G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000033887.2, RCV000055752.1, RCV000033886.2, RCV000055751.1, RCV000033885.2,