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rs571594379

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs571594379(G;T)
Make rs571594379(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position18119425
GeneLOC105371566, MYO15A
is asnp
is mentioned by
dbSNPrs571594379
dbSNP (classic)rs571594379
ClinGenrs571594379
ebirs571594379
HLIrs571594379
Exacrs571594379
Gnomadrs571594379
Varsomers571594379
LitVarrs571594379
Maprs571594379
PheGenIrs571594379
Biobankrs571594379
1000 genomesrs571594379
hgdprs571594379
ensemblrs571594379
geneviewrs571594379
scholarrs571594379
googlers571594379
pharmgkbrs571594379
gwascentralrs571594379
openSNPrs571594379
23andMers571594379
SNPshotrs571594379
SNPdbers571594379
MSV3drs571594379
GWAS Ctlgrs571594379
Max Magnitude0
ClinVar
Risk rs571594379(T;T)
Alt rs571594379(T;T)
Reference Rs571594379(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene MYO15A
CLNDBN Deafness, autosomal recessive 3
Reversed 0
HGVS NC_000017.10:g.18022739G>T
CLNSRC
CLNACC RCV000477946.1,