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rs80338904

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80338904(A;G)
Make rs80338904(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position215671085
GeneUSH2A
is asnp
is mentioned by
dbSNPrs80338904
ebirs80338904
HLIrs80338904
Exacrs80338904
Varsomers80338904
Maprs80338904
PheGenIrs80338904
hapmaprs80338904
1000 genomesrs80338904
hgdprs80338904
ensemblrs80338904
gopubmedrs80338904
geneviewrs80338904
scholarrs80338904
googlers80338904
pharmgkbrs80338904
gwascentralrs80338904
openSNPrs80338904
23andMers80338904
23andMe allrs80338904
SNP Nexus

SNPshotrs80338904
SNPdbers80338904
MSV3drs80338904
GWAS Ctlgrs80338904
Max Magnitude0
OMIM608400
Desc
Variant0012
Relatedalso
ClinVar
Risk rs80338904(G;G)
Alt rs80338904(G;G)
Reference rs80338904(A;A)
Significance Pathogenic
Disease Retinitis pigmentosa 39 Retinitis pigmentosa
Variation info
Gene USH2A
CLNDBN Retinitis pigmentosa 39 Retinitis pigmentosa
Reversed 1
HGVS NC_000001.10:g.215844427T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002458.4, RCV000032522.2,


[PMID 17296898] Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2.