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rs727505395

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727505395(A;A)
Make rs727505395(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position49878940
GeneMYO5B
is asnp
is mentioned by
dbSNPrs727505395
dbSNP (classic)rs727505395
ClinGenrs727505395
ebirs727505395
HLIrs727505395
Exacrs727505395
Gnomadrs727505395
Varsomers727505395
LitVarrs727505395
Maprs727505395
PheGenIrs727505395
Biobankrs727505395
1000 genomesrs727505395
hgdprs727505395
ensemblrs727505395
geneviewrs727505395
scholarrs727505395
googlers727505395
pharmgkbrs727505395
gwascentralrs727505395
openSNPrs727505395
23andMers727505395
SNPshotrs727505395
SNPdbers727505395
MSV3drs727505395
GWAS Ctlgrs727505395
Max Magnitude0
ClinVar
Risk rs727505395(A;A)
Alt rs727505395(A;A)
Reference Rs727505395(G;G)
Significance Probable-Pathogenic
Disease Congenital microvillous atrophy
Variation info
Gene MYO5B
CLNDBN Congenital microvillous atrophy
Reversed 1
HGVS NC_000018.9:g.47405310C>T
CLNSRC
CLNACC RCV000157066.2,