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rs1057519604

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519604(-;-)
Make rs1057519604(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position18148940
GeneLOC105371568, MYO15A
is asnp
is mentioned by
dbSNPrs1057519604
dbSNP (classic)rs1057519604
ClinGenrs1057519604
ebirs1057519604
HLIrs1057519604
Exacrs1057519604
Gnomadrs1057519604
Varsomers1057519604
LitVarrs1057519604
Maprs1057519604
PheGenIrs1057519604
Biobankrs1057519604
1000 genomesrs1057519604
hgdprs1057519604
ensemblrs1057519604
geneviewrs1057519604
scholarrs1057519604
googlers1057519604
pharmgkbrs1057519604
gwascentralrs1057519604
openSNPrs1057519604
23andMers1057519604
SNPshotrs1057519604
SNPdbers1057519604
MSV3drs1057519604
GWAS Ctlgrs1057519604
Max Magnitude0
ClinVar
Risk rs1057519604(-;-)
Alt rs1057519604(-;-)
Reference Rs1057519604(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene MYO15A
CLNDBN Deafness, autosomal recessive 3
Reversed 0
HGVS NC_000017.10:g.18052254delG
CLNSRC
CLNACC RCV000417129.1,