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rs121908103

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908103(G;G)
Make rs121908103(G;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position50036982
GeneMYO5B
is asnp
is mentioned by
dbSNPrs121908103
ebirs121908103
HLIrs121908103
Exacrs121908103
Varsomers121908103
Maprs121908103
PheGenIrs121908103
hapmaprs121908103
1000 genomesrs121908103
hgdprs121908103
ensemblrs121908103
gopubmedrs121908103
geneviewrs121908103
scholarrs121908103
googlers121908103
pharmgkbrs121908103
gwascentralrs121908103
openSNPrs121908103
23andMers121908103
23andMe allrs121908103
SNP Nexus

SNPshotrs121908103
SNPdbers121908103
MSV3drs121908103
GWAS Ctlgrs121908103
Max Magnitude0
OMIM606540
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121908103(C,G;C,G)
Alt rs121908103(C,G;C,G)
Reference rs121908103(T;T)
Significance Pathogenic
Disease Congenital microvillous atrophy
Variation info
Gene MYO5B
CLNDBN Congenital microvillous atrophy
Reversed 1
HGVS NC_000018.9:g.47563352A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004471.2,