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rs854777

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs854777(A;G)
Make rs854777(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position18143584
GeneMYO15A
is asnp
is mentioned by
dbSNPrs854777
ebirs854777
HLIrs854777
Exacrs854777
Varsomers854777
Maprs854777
PheGenIrs854777
hapmaprs854777
1000 genomesrs854777
hgdprs854777
ensemblrs854777
gopubmedrs854777
geneviewrs854777
scholarrs854777
googlers854777
pharmgkbrs854777
gwascentralrs854777
openSNPrs854777
23andMers854777
23andMe allrs854777
SNP Nexus

SNPshotrs854777
SNPdbers854777
MSV3drs854777
GWAS Ctlgrs854777
GMAF0.2466
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene MYO15A
allele C
frequency 0.767
sift TOLERATED
HuRef 1103645293753
Disease Association Defects in MYO15A are the cause of autosomal recessive nonsyndromic deafness type 3 (DFNB3) (MIM:600316).



[PMID 18776599OA-icon.png] Susceptibility genes for gentamicin-induced vestibular dysfunction.


GET Evidence
MYO15A-C1975R
aa_change Cys1975Arg
aa_change_short C1975R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.726562
summary



ClinVar
Risk rs854777(G;G)
Alt rs854777(G;G)
Reference rs854777(A;A)
Significance Non-pathogenic
Disease not specified
Variation info
Gene MYO15A
CLNDBN not specified
Reversed 1
HGVS NC_000017.10:g.18046898T>C
CLNSRC ClinVar
CLNACC RCV000038976.2,