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rs121912598

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912598(G;G)
Make rs121912598(G;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position216364958
GeneUSH2A
is asnp
is mentioned by
dbSNPrs121912598
ebirs121912598
HLIrs121912598
Exacrs121912598
Varsomers121912598
Maprs121912598
PheGenIrs121912598
hapmaprs121912598
1000 genomesrs121912598
hgdprs121912598
ensemblrs121912598
gopubmedrs121912598
geneviewrs121912598
scholarrs121912598
googlers121912598
pharmgkbrs121912598
gwascentralrs121912598
openSNPrs121912598
23andMers121912598
23andMe allrs121912598
SNP Nexus

SNPshotrs121912598
SNPdbers121912598
MSV3drs121912598
GWAS Ctlgrs121912598
Max Magnitude0
OMIM608400
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121912598(G;G)
Alt rs121912598(G;G)
Reference rs121912598(T;T)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216538300A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002448.3,