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rs1057519382

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519382(G;G)
Make rs1057519382(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position215798944
GeneUSH2A
is asnp
is mentioned by
dbSNPrs1057519382
dbSNP (old)rs1057519382
ClinGenrs1057519382
ebirs1057519382
HLIrs1057519382
Exacrs1057519382
Gnomadrs1057519382
Varsomers1057519382
Maprs1057519382
PheGenIrs1057519382
Biobankrs1057519382
1000 genomesrs1057519382
hgdprs1057519382
ensemblrs1057519382
gopubmedrs1057519382
geneviewrs1057519382
scholarrs1057519382
googlers1057519382
pharmgkbrs1057519382
gwascentralrs1057519382
openSNPrs1057519382
23andMers1057519382
23andMe allrs1057519382
SNPshotrs1057519382
SNPdbers1057519382
MSV3drs1057519382
GWAS Ctlgrs1057519382
Max Magnitude0
ClinVar
Risk rs1057519382(G;G)
Alt rs1057519382(G;G)
Reference Rs1057519382(T;T)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 1
Reversed 1
HGVS NC_000001.10:g.215972286A>C
CLNSRC
CLNACC RCV000216234.1,