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rs869312179

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869312179(G;T)
Make rs869312179(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position216175405
GeneUSH2A
is asnp
is mentioned by
dbSNPrs869312179
ebirs869312179
HLIrs869312179
Exacrs869312179
Varsomers869312179
Maprs869312179
PheGenIrs869312179
hapmaprs869312179
1000 genomesrs869312179
hgdprs869312179
ensemblrs869312179
gopubmedrs869312179
geneviewrs869312179
scholarrs869312179
googlers869312179
pharmgkbrs869312179
gwascentralrs869312179
openSNPrs869312179
23andMers869312179
23andMe allrs869312179
SNP Nexus

SNPshotrs869312179
SNPdbers869312179
MSV3drs869312179
GWAS Ctlgrs869312179
Max Magnitude0
ClinVar
Risk rs869312179(T;T)
Alt rs869312179(T;T)
Reference rs869312179(G;G)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216348747C>A
CLNSRC
CLNACC RCV000210331.1,