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rs372347027

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs372347027(C;C)
Make rs372347027(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position215867179
GeneUSH2A
is asnp
is mentioned by
dbSNPrs372347027
ebirs372347027
HLIrs372347027
Exacrs372347027
Varsomers372347027
Maprs372347027
PheGenIrs372347027
hapmaprs372347027
1000 genomesrs372347027
hgdprs372347027
ensemblrs372347027
gopubmedrs372347027
geneviewrs372347027
scholarrs372347027
googlers372347027
pharmgkbrs372347027
gwascentralrs372347027
openSNPrs372347027
23andMers372347027
23andMe allrs372347027
SNP Nexus

SNPshotrs372347027
SNPdbers372347027
MSV3drs372347027
GWAS Ctlgrs372347027
Max Magnitude0
ClinVar
Risk rs372347027(C;C)
Alt rs372347027(C;C)
Reference rs372347027(T;T)
Significance Probable-Pathogenic
Disease Retinitis pigmentosa 39 Usher syndrome
Variation info
Gene USH2A
CLNDBN Retinitis pigmentosa 39 Usher syndrome, type 2A
Reversed 0
HGVS NC_000001.10:g.216040521T>C
CLNSRC
CLNACC RCV000178560.1, RCV000178561.1,