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rs148660051

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs148660051(C;T)
Make rs148660051(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position215790168
GeneUSH2A
is asnp
is mentioned by
dbSNPrs148660051
dbSNP (classic)rs148660051
ClinGenrs148660051
ebirs148660051
HLIrs148660051
Exacrs148660051
Gnomadrs148660051
Varsomers148660051
LitVarrs148660051
Maprs148660051
PheGenIrs148660051
Biobankrs148660051
1000 genomesrs148660051
hgdprs148660051
ensemblrs148660051
geneviewrs148660051
scholarrs148660051
googlers148660051
pharmgkbrs148660051
gwascentralrs148660051
openSNPrs148660051
23andMers148660051
SNPshotrs148660051
SNPdbers148660051
MSV3drs148660051
GWAS Ctlgrs148660051
Max Magnitude0
ClinVar
Risk rs148660051(T;T)
Alt rs148660051(T;T)
Reference Rs148660051(C;C)
Significance Other
Disease Retinitis pigmentosa 39 Usher syndrome not provided
Variation info
Gene USH2A
CLNDBN Retinitis pigmentosa 39 Usher syndrome, type 2A not provided
Reversed 0
HGVS NC_000001.10:g.215963510C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000179099.1, RCV000190637.4, RCV000482080.1,