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rs377145777

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs377145777(A;A)
Make rs377145777(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position17527256
GeneUSH1C
is asnp
is mentioned by
dbSNPrs377145777
dbSNP (classic)rs377145777
ClinGenrs377145777
ebirs377145777
HLIrs377145777
Exacrs377145777
Gnomadrs377145777
Varsomers377145777
LitVarrs377145777
Maprs377145777
PheGenIrs377145777
Biobankrs377145777
1000 genomesrs377145777
hgdprs377145777
ensemblrs377145777
geneviewrs377145777
scholarrs377145777
googlers377145777
pharmgkbrs377145777
gwascentralrs377145777
openSNPrs377145777
23andMers377145777
SNPshotrs377145777
SNPdbers377145777
MSV3drs377145777
GWAS Ctlgrs377145777
Max Magnitude0
ClinVar
Risk rs377145777(A;A)
Alt rs377145777(A;A)
Reference Rs377145777(G;G)
Significance Probable-Pathogenic
Disease Deafness Usher syndrome
Variation info
Gene USH1C
CLNDBN Deafness, autosomal recessive 18 Usher syndrome, type 1C
Reversed 0
HGVS NC_000011.9:g.17548803G>A
CLNSRC
CLNACC RCV000409966.1, RCV000412375.1,