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rs727505394

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs727505394(A;A)
Make rs727505394(A;T)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position49936250
GeneMYO5B
is asnp
is mentioned by
dbSNPrs727505394
ebirs727505394
HLIrs727505394
Exacrs727505394
Varsomers727505394
Maprs727505394
PheGenIrs727505394
hapmaprs727505394
1000 genomesrs727505394
hgdprs727505394
ensemblrs727505394
gopubmedrs727505394
geneviewrs727505394
scholarrs727505394
googlers727505394
pharmgkbrs727505394
gwascentralrs727505394
openSNPrs727505394
23andMers727505394
23andMe allrs727505394
SNP Nexus

SNPshotrs727505394
SNPdbers727505394
MSV3drs727505394
GWAS Ctlgrs727505394
Max Magnitude0
ClinVar
Risk rs727505394(A;A)
Alt rs727505394(A;A)
Reference rs727505394(T;T)
Significance Pathogenic
Disease Congenital microvillous atrophy
Variation info
Gene MYO5B
CLNDBN Congenital microvillous atrophy
Reversed 1
HGVS NC_000018.9:g.47462620A>T
CLNSRC
CLNACC RCV000157065.2,