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rs712270

From SNPedia

Orientationminus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs712270(A;A)
Make rs712270(A;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position18153853
GeneMYO15A
is asnp
is mentioned by
dbSNPrs712270
ebirs712270
HLIrs712270
Exacrs712270
Varsomers712270
Maprs712270
PheGenIrs712270
hapmaprs712270
1000 genomesrs712270
hgdprs712270
ensemblrs712270
gopubmedrs712270
geneviewrs712270
scholarrs712270
googlers712270
pharmgkbrs712270
gwascentralrs712270
openSNPrs712270
23andMers712270
23andMe allrs712270
SNP Nexus

SNPshotrs712270
SNPdbers712270
MSV3drs712270
GWAS Ctlgrs712270
GMAF0.2466
Max Magnitude0
? (A;A) (A;T) (T;T) 28
Venter snp
Source plos
Gene MYO15A
allele T
frequency 0.462
sift
HuRef 1103645293779
Disease Association Defects in MYO15A are the cause of autosomal recessive nonsyndromic deafness type 3 (DFNB3) (MIM:600316).



GET Evidence
MYO15A-Y2680F
aa_change Tyr2680Phe
aa_change_short Y2680F
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0714286
summary



ClinVar
Risk rs712270(A;A)
Alt rs712270(A;A)
Reference rs712270(T;T)
Significance Non-pathogenic
Disease not specified
Variation info
Gene MYO15A
CLNDBN not specified
Reversed 1
HGVS NC_000017.10:g.18057167A>T
CLNSRC
CLNACC RCV000214657.1,