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rs28936368

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs28936368(C;T)
Make rs28936368(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position18783129
GeneCOMP
is asnp
is mentioned by
dbSNPrs28936368
ebirs28936368
HLIrs28936368
Exacrs28936368
Varsomers28936368
Maprs28936368
PheGenIrs28936368
hapmaprs28936368
1000 genomesrs28936368
hgdprs28936368
ensemblrs28936368
gopubmedrs28936368
geneviewrs28936368
scholarrs28936368
googlers28936368
pharmgkbrs28936368
gwascentralrs28936368
openSNPrs28936368
23andMers28936368
23andMe allrs28936368
SNP Nexus

SNPshotrs28936368
SNPdbers28936368
MSV3drs28936368
GWAS Ctlgrs28936368
GMAF0.001837
Max Magnitude0
? (C;C) (C;T) (T;T) 28
OMIM600310
DescEPIPHYSEAL DYSPLASIA, MULTIPLE, FAIRBANK TYPE
Variant0017
Relatedalso


ClinVar
Risk rs28936368(A,T;A,T)
Alt rs28936368(A,T;A,T)
Reference rs28936368(C;C)
Significance Pathogenic
Disease Multiple epiphyseal dysplasia 1
Variation info
Gene COMP
CLNDBN Multiple epiphyseal dysplasia 1
Reversed 1
HGVS NC_000019.9:g.18893939G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009776.2,