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rs121908105

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908105(C;T)
Make rs121908105(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position49936289
GeneMYO5B
is asnp
is mentioned by
dbSNPrs121908105
ebirs121908105
HLIrs121908105
Exacrs121908105
Varsomers121908105
Maprs121908105
PheGenIrs121908105
hapmaprs121908105
1000 genomesrs121908105
hgdprs121908105
ensemblrs121908105
gopubmedrs121908105
geneviewrs121908105
scholarrs121908105
googlers121908105
pharmgkbrs121908105
gwascentralrs121908105
openSNPrs121908105
23andMers121908105
23andMe allrs121908105
SNP Nexus

SNPshotrs121908105
SNPdbers121908105
MSV3drs121908105
GWAS Ctlgrs121908105
Max Magnitude0
OMIM606540
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121908105(A,G,T;A,G,T)
Alt rs121908105(A,G,T;A,G,T)
Reference rs121908105(C;C)
Significance Pathogenic
Disease Congenital microvillous atrophy
Variation info
Gene MYO5B
CLNDBN Congenital microvillous atrophy
Reversed 1
HGVS NC_000018.9:g.47462659G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004473.2,