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rs121908970

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908970(C;T)
Make rs121908970(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position18148133
GeneMYO15A
is asnp
is mentioned by
dbSNPrs121908970
ebirs121908970
HLIrs121908970
Exacrs121908970
Varsomers121908970
Maprs121908970
PheGenIrs121908970
hapmaprs121908970
1000 genomesrs121908970
hgdprs121908970
ensemblrs121908970
gopubmedrs121908970
geneviewrs121908970
scholarrs121908970
googlers121908970
pharmgkbrs121908970
gwascentralrs121908970
openSNPrs121908970
23andMers121908970
23andMe allrs121908970
SNP Nexus

SNPshotrs121908970
SNPdbers121908970
MSV3drs121908970
GWAS Ctlgrs121908970
GMAF0.001377
Max Magnitude0
OMIM602666
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121908970(T;T)
Alt rs121908970(T;T)
Reference rs121908970(C;C)
Significance Pathogenic
Disease Deafness not specified
Variation info
Gene MYO15A
CLNDBN Deafness, with smith-magenis syndrome not specified
Reversed 0
HGVS NC_000017.10:g.18051447C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007371.2, RCV000038978.2,