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rs28936668

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0
Make rs28936668(A;G)
Make rs28936668(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position18786096
GeneCOMP
is asnp
is mentioned by
dbSNPrs28936668
ebirs28936668
HLIrs28936668
Exacrs28936668
Varsomers28936668
Maprs28936668
PheGenIrs28936668
hapmaprs28936668
1000 genomesrs28936668
hgdprs28936668
ensemblrs28936668
gopubmedrs28936668
geneviewrs28936668
scholarrs28936668
googlers28936668
pharmgkbrs28936668
gwascentralrs28936668
openSNPrs28936668
23andMers28936668
23andMe allrs28936668
SNP Nexus

SNPshotrs28936668
SNPdbers28936668
MSV3drs28936668
GWAS Ctlgrs28936668
Max Magnitude0
OMIM600310
DescEPIPHYSEAL DYSPLASIA, MULTIPLE, FAIRBANK TYPE
Variant0009
Relatedalso
Neighborrs28933699
Distance53


ClinVar
Risk rs28936668(G;G)
Alt rs28936668(G;G)
Reference rs28936668(A;A)
Significance Pathogenic
Disease Epiphyseal dysplasia
Variation info
Gene COMP
CLNDBN Epiphyseal dysplasia, multiple, 1, severe
Reversed 1
HGVS NC_000019.9:g.18896906T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009768.2,