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rs1057519193

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519193(A;A)
Make rs1057519193(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position215759786
GeneUSH2A
is asnp
is mentioned by
dbSNPrs1057519193
dbSNP (classic)rs1057519193
ClinGenrs1057519193
ebirs1057519193
HLIrs1057519193
Exacrs1057519193
Gnomadrs1057519193
Varsomers1057519193
LitVarrs1057519193
Maprs1057519193
PheGenIrs1057519193
Biobankrs1057519193
1000 genomesrs1057519193
hgdprs1057519193
ensemblrs1057519193
geneviewrs1057519193
scholarrs1057519193
googlers1057519193
pharmgkbrs1057519193
gwascentralrs1057519193
openSNPrs1057519193
23andMers1057519193
SNPshotrs1057519193
SNPdbers1057519193
MSV3drs1057519193
GWAS Ctlgrs1057519193
Max Magnitude0
ClinVar
Risk rs1057519193(A;A)
Alt rs1057519193(A;A)
Reference Rs1057519193(G;G)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene USH2A
CLNDBN not provided
Reversed 1
HGVS NC_000001.10:g.215933128C>T
CLNSRC
CLNACC RCV000416074.1,