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rs121912600

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912600(G;T)
Make rs121912600(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position216324240
GeneUSH2A
is asnp
is mentioned by
dbSNPrs121912600
ebirs121912600
HLIrs121912600
Exacrs121912600
Varsomers121912600
Maprs121912600
PheGenIrs121912600
hapmaprs121912600
1000 genomesrs121912600
hgdprs121912600
ensemblrs121912600
gopubmedrs121912600
geneviewrs121912600
scholarrs121912600
googlers121912600
pharmgkbrs121912600
gwascentralrs121912600
openSNPrs121912600
23andMers121912600
23andMe allrs121912600
SNP Nexus

SNPshotrs121912600
SNPdbers121912600
MSV3drs121912600
GWAS Ctlgrs121912600
Max Magnitude0
OMIM608400
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121912600(T;T)
Alt rs121912600(T;T)
Reference rs121912600(G;G)
Significance Pathogenic
Disease Usher syndrome not provided
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A not provided
Reversed 1
HGVS NC_000001.10:g.216497582C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002453.5, RCV000224697.1,