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rs121912599

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912599(A;A)
Make rs121912599(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position216325492
GeneUSH2A
is asnp
is mentioned by
dbSNPrs121912599
ebirs121912599
HLIrs121912599
Exacrs121912599
Varsomers121912599
Maprs121912599
PheGenIrs121912599
hapmaprs121912599
1000 genomesrs121912599
hgdprs121912599
ensemblrs121912599
gopubmedrs121912599
geneviewrs121912599
scholarrs121912599
googlers121912599
pharmgkbrs121912599
gwascentralrs121912599
openSNPrs121912599
23andMers121912599
23andMe allrs121912599
SNP Nexus

SNPshotrs121912599
SNPdbers121912599
MSV3drs121912599
GWAS Ctlgrs121912599
Max Magnitude0
OMIM608400
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121912599(A;A)
Alt rs121912599(A;A)
Reference rs121912599(G;G)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216498834C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002449.3,