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rs1057517844

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517844(C;T)
Make rs1057517844(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position215675220
GeneUSH2A
is asnp
is mentioned by
dbSNPrs1057517844
dbSNP (classic)rs1057517844
ClinGenrs1057517844
ebirs1057517844
HLIrs1057517844
Exacrs1057517844
Gnomadrs1057517844
Varsomers1057517844
LitVarrs1057517844
Maprs1057517844
PheGenIrs1057517844
Biobankrs1057517844
1000 genomesrs1057517844
hgdprs1057517844
ensemblrs1057517844
geneviewrs1057517844
scholarrs1057517844
googlers1057517844
pharmgkbrs1057517844
gwascentralrs1057517844
openSNPrs1057517844
23andMers1057517844
SNPshotrs1057517844
SNPdbers1057517844
MSV3drs1057517844
GWAS Ctlgrs1057517844
Max Magnitude0
ClinVar
Risk rs1057517844(T;T)
Alt rs1057517844(T;T)
Reference Rs1057517844(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene USH2A
CLNDBN not provided
Reversed 1
HGVS NC_000001.10:g.215848562G>A
CLNSRC
CLNACC RCV000412996.1,