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rs1057518826

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518826(A;A)
Make rs1057518826(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position215993103
GeneUSH2A
is asnp
is mentioned by
dbSNPrs1057518826
dbSNP (old)rs1057518826
ClinGenrs1057518826
ebirs1057518826
HLIrs1057518826
Exacrs1057518826
Gnomadrs1057518826
Varsomers1057518826
Maprs1057518826
PheGenIrs1057518826
Biobankrs1057518826
1000 genomesrs1057518826
hgdprs1057518826
ensemblrs1057518826
gopubmedrs1057518826
geneviewrs1057518826
scholarrs1057518826
googlers1057518826
pharmgkbrs1057518826
gwascentralrs1057518826
openSNPrs1057518826
23andMers1057518826
23andMe allrs1057518826
SNPshotrs1057518826
SNPdbers1057518826
MSV3drs1057518826
GWAS Ctlgrs1057518826
Max Magnitude0
ClinVar
Risk rs1057518826(A;A)
Alt rs1057518826(A;A)
Reference Rs1057518826(C;C)
Significance Probable-Pathogenic
Disease Congenital sensorineural hearing impairment
Variation info
Gene USH2A
CLNDBN Congenital sensorineural hearing impairment
Reversed 1
HGVS NC_000001.10:g.216166445G>T
CLNSRC
CLNACC RCV000414770.1,