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rs1057519208

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519208(A;A)
Make rs1057519208(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position215845831
GeneUSH2A
is asnp
is mentioned by
dbSNPrs1057519208
dbSNP (old)rs1057519208
ClinGenrs1057519208
ebirs1057519208
HLIrs1057519208
Exacrs1057519208
Gnomadrs1057519208
Varsomers1057519208
Maprs1057519208
PheGenIrs1057519208
Biobankrs1057519208
1000 genomesrs1057519208
hgdprs1057519208
ensemblrs1057519208
gopubmedrs1057519208
geneviewrs1057519208
scholarrs1057519208
googlers1057519208
pharmgkbrs1057519208
gwascentralrs1057519208
openSNPrs1057519208
23andMers1057519208
23andMe allrs1057519208
SNPshotrs1057519208
SNPdbers1057519208
MSV3drs1057519208
GWAS Ctlgrs1057519208
Max Magnitude0
ClinVar
Risk rs1057519208(A;A) rs1057519208(T;T)
Alt rs1057519208(A;A) rs1057519208(T;T)
Reference Rs1057519208(C;C)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene USH2A
CLNDBN not provided
Reversed 1
HGVS NC_000001.10:g.216019173G>T
CLNSRC
CLNACC RCV000416258.1,