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rs1057517533

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CTCCCTT;CTCCCTT) 0 common in clinvar
Make rs1057517533(-;-)
Make rs1057517533(-;CTCCCTT)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position215674648
GeneUSH2A
is asnp
is mentioned by
dbSNPrs1057517533
dbSNP (old)rs1057517533
ClinGenrs1057517533
ebirs1057517533
HLIrs1057517533
Exacrs1057517533
Gnomadrs1057517533
Varsomers1057517533
Maprs1057517533
PheGenIrs1057517533
Biobankrs1057517533
1000 genomesrs1057517533
hgdprs1057517533
ensemblrs1057517533
gopubmedrs1057517533
geneviewrs1057517533
scholarrs1057517533
googlers1057517533
pharmgkbrs1057517533
gwascentralrs1057517533
openSNPrs1057517533
23andMers1057517533
23andMe allrs1057517533
SNPshotrs1057517533
SNPdbers1057517533
MSV3drs1057517533
GWAS Ctlgrs1057517533
Max Magnitude0
ClinVar
Risk rs1057517533(-;-)
Alt rs1057517533(-;-)
Reference Rs1057517533(CTCCCTT;CTCCCTT)
Significance Probable-Pathogenic
Disease Retinitis pigmentosa 39 Usher syndrome
Variation info
Gene USH2A
CLNDBN Retinitis pigmentosa 39 Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.215847990_215847996delAAGGGAG
CLNSRC
CLNACC RCV000409412.1, RCV000411819.1,