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rs397517963

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397517963(C;G)
Make rs397517963(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position216325448
GeneUSH2A
is asnp
is mentioned by
dbSNPrs397517963
ebirs397517963
HLIrs397517963
Exacrs397517963
Varsomers397517963
Maprs397517963
PheGenIrs397517963
hapmaprs397517963
1000 genomesrs397517963
hgdprs397517963
ensemblrs397517963
gopubmedrs397517963
geneviewrs397517963
scholarrs397517963
googlers397517963
pharmgkbrs397517963
gwascentralrs397517963
openSNPrs397517963
23andMers397517963
23andMe allrs397517963
SNP Nexus

SNPshotrs397517963
SNPdbers397517963
MSV3drs397517963
GWAS Ctlgrs397517963
Max Magnitude0
ClinVar
Risk rs397517963(G,T;G,T)
Alt rs397517963(G,T;G,T)
Reference rs397517963(C;C)
Significance Pathogenic
Disease Usher syndrome not specified
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A not specified
Reversed 1
HGVS NC_000001.10:g.216498790G>A; NC_000001.10:g.216498790G>C
CLNSRC
CLNACC RCV000213203.1, RCV000041663.2,