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rs121908106

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908106(C;T)
Make rs121908106(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position49936276
GeneMYO5B
is asnp
is mentioned by
dbSNPrs121908106
ebirs121908106
HLIrs121908106
Exacrs121908106
Varsomers121908106
Maprs121908106
PheGenIrs121908106
hapmaprs121908106
1000 genomesrs121908106
hgdprs121908106
ensemblrs121908106
gopubmedrs121908106
geneviewrs121908106
scholarrs121908106
googlers121908106
pharmgkbrs121908106
gwascentralrs121908106
openSNPrs121908106
23andMers121908106
23andMe allrs121908106
SNP Nexus

SNPshotrs121908106
SNPdbers121908106
MSV3drs121908106
GWAS Ctlgrs121908106
Max Magnitude0
OMIM606540
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121908106(T;T)
Alt rs121908106(T;T)
Reference rs121908106(C;C)
Significance Pathogenic
Disease Congenital microvillous atrophy
Variation info
Gene MYO5B
CLNDBN Congenital microvillous atrophy
Reversed 1
HGVS NC_000018.9:g.47462646G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004474.2,