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rs1057519374

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519374(C;T)
Make rs1057519374(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position85012812
GeneSEMA3D
is asnp
is mentioned by
dbSNPrs1057519374
dbSNP (classic)rs1057519374
ClinGenrs1057519374
ebirs1057519374
HLIrs1057519374
Exacrs1057519374
Gnomadrs1057519374
Varsomers1057519374
LitVarrs1057519374
Maprs1057519374
PheGenIrs1057519374
Biobankrs1057519374
1000 genomesrs1057519374
hgdprs1057519374
ensemblrs1057519374
geneviewrs1057519374
scholarrs1057519374
googlers1057519374
pharmgkbrs1057519374
gwascentralrs1057519374
openSNPrs1057519374
23andMers1057519374
SNPshotrs1057519374
SNPdbers1057519374
MSV3drs1057519374
GWAS Ctlgrs1057519374
Max Magnitude0
ClinVar
Risk rs1057519374(T;T)
Alt rs1057519374(T;T)
Reference Rs1057519374(C;C)
Significance Pathogenic
Disease Progressive sensorineural hearing impairment
Variation info
Gene SEMA3D
CLNDBN Progressive sensorineural hearing impairment
Reversed 1
HGVS NC_000007.13:g.84642128G>A
CLNSRC
CLNACC RCV000416605.1,