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rs375290498

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs375290498(A;A)
Make rs375290498(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position18143580
GeneMYO15A
is asnp
is mentioned by
dbSNPrs375290498
dbSNP (classic)rs375290498
ClinGenrs375290498
ebirs375290498
HLIrs375290498
Exacrs375290498
Gnomadrs375290498
Varsomers375290498
LitVarrs375290498
Maprs375290498
PheGenIrs375290498
Biobankrs375290498
1000 genomesrs375290498
hgdprs375290498
ensemblrs375290498
geneviewrs375290498
scholarrs375290498
googlers375290498
pharmgkbrs375290498
gwascentralrs375290498
openSNPrs375290498
23andMers375290498
SNPshotrs375290498
SNPdbers375290498
MSV3drs375290498
GWAS Ctlgrs375290498
Max Magnitude0
ClinVar
Risk rs375290498(A;A) rs375290498(T;T)
Alt rs375290498(A;A) rs375290498(T;T)
Reference Rs375290498(G;G)
Significance Pathogenic
Disease Deafness not specified not provided
Variation info
Gene MYO15A
CLNDBN Deafness, autosomal recessive 3 not specified not provided
Reversed 0
HGVS NC_000017.10:g.18046894G>A
CLNSRC
CLNACC RCV000185531.2, RCV000216211.1, RCV000255905.1,