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rs556752387

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs556752387(C;T)
Make rs556752387(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position26026879
GeneMYO18B
is asnp
is mentioned by
dbSNPrs556752387
ebirs556752387
HLIrs556752387
Exacrs556752387
Varsomers556752387
Maprs556752387
PheGenIrs556752387
hapmaprs556752387
1000 genomesrs556752387
hgdprs556752387
ensemblrs556752387
gopubmedrs556752387
geneviewrs556752387
scholarrs556752387
googlers556752387
pharmgkbrs556752387
gwascentralrs556752387
openSNPrs556752387
23andMers556752387
23andMe allrs556752387
SNP Nexus

SNPshotrs556752387
SNPdbers556752387
MSV3drs556752387
GWAS Ctlgrs556752387
Max Magnitude0
ClinVar
Risk rs556752387(T;T)
Alt rs556752387(T;T)
Reference rs556752387(C;C)
Significance Pathogenic
Disease Klippel-feil syndrome 4
Variation info
Gene MYO18B
CLNDBN Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism
Reversed 0
HGVS NC_000022.10:g.26422845C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000190875.3,