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rs61736451

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61736451(A;A)
Make rs61736451(A;G)
Make rs61736451(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position10359892
GeneATP2B2
is asnp
is mentioned by
dbSNPrs61736451
ebirs61736451
HLIrs61736451
Exacrs61736451
Varsomers61736451
Maprs61736451
PheGenIrs61736451
hapmaprs61736451
1000 genomesrs61736451
hgdprs61736451
ensemblrs61736451
gopubmedrs61736451
geneviewrs61736451
scholarrs61736451
googlers61736451
pharmgkbrs61736451
gwascentralrs61736451
openSNPrs61736451
23andMers61736451
23andMe allrs61736451
SNP Nexus

SNPshotrs61736451
SNPdbers61736451
MSV3drs61736451
GWAS Ctlgrs61736451
GMAF0.006428
Max Magnitude0
OMIM108733
Desc
Variant0001
Relatedalso
ClinVar
Risk rs61736451(T;T)
Alt rs61736451(T;T)
Reference rs61736451(C;C)
Significance Other
Disease Deafness
Variation info
Gene ATP2B2
CLNDBN Deafness, autosomal recessive 12, modifier of
Reversed 0
HGVS NC_000003.11:g.10401576C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019379.24,


GET Evidence
ATP2B2-V631M
aa_change Val631Met
aa_change_short V631M
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.00548429
summary