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rs121908104

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908104(A;A)
Make rs121908104(A;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position49974547
GeneMYO5B
is asnp
is mentioned by
dbSNPrs121908104
ebirs121908104
HLIrs121908104
Exacrs121908104
Varsomers121908104
Maprs121908104
PheGenIrs121908104
hapmaprs121908104
1000 genomesrs121908104
hgdprs121908104
ensemblrs121908104
gopubmedrs121908104
geneviewrs121908104
scholarrs121908104
googlers121908104
pharmgkbrs121908104
gwascentralrs121908104
openSNPrs121908104
23andMers121908104
23andMe allrs121908104
SNP Nexus

SNPshotrs121908104
SNPdbers121908104
MSV3drs121908104
GWAS Ctlgrs121908104
Max Magnitude0
OMIM606540
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908104(A;A)
Alt rs121908104(A;A)
Reference rs121908104(G;G)
Significance Pathogenic
Disease Congenital microvillous atrophy
Variation info
Gene MYO5B
CLNDBN Congenital microvillous atrophy
Reversed 1
HGVS NC_000018.9:g.47500917C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004472.2,