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rs111033524

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033524(G;T)
Make rs111033524(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position216198494
GeneLOC105372918, USH2A
is asnp
is mentioned by
dbSNPrs111033524
dbSNP (old)rs111033524
ClinGenrs111033524
ebirs111033524
HLIrs111033524
Exacrs111033524
Gnomadrs111033524
Varsomers111033524
Maprs111033524
PheGenIrs111033524
Biobankrs111033524
1000 genomesrs111033524
hgdprs111033524
ensemblrs111033524
gopubmedrs111033524
geneviewrs111033524
scholarrs111033524
googlers111033524
pharmgkbrs111033524
gwascentralrs111033524
openSNPrs111033524
23andMers111033524
23andMe allrs111033524
SNPshotrs111033524
SNPdbers111033524
MSV3drs111033524
GWAS Ctlgrs111033524
Max Magnitude0
ClinVar
Risk rs111033524(C;C) rs111033524(T;T)
Alt rs111033524(C;C) rs111033524(T;T)
Reference Rs111033524(G;G)
Significance Probable-Pathogenic
Disease not specified Usher syndrome not provided
Variation info
Gene USH2A
CLNDBN not specified Usher syndrome, type 1 not provided
Reversed 1
HGVS NC_000001.10:g.216371836C>A
CLNSRC
CLNACC RCV000041835.3, RCV000219904.1, RCV000488230.1,