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rs587776546

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs587776546(-;C)
Make rs587776546(C;C)
ReferenceGRCh38 38.1/142
Chromosome17
Position74920441
GeneUSH1G
is asnp
is mentioned by
dbSNPrs587776546
dbSNP (classic)rs587776546
ClinGenrs587776546
ebirs587776546
HLIrs587776546
Exacrs587776546
Gnomadrs587776546
Varsomers587776546
LitVarrs587776546
Maprs587776546
PheGenIrs587776546
Biobankrs587776546
1000 genomesrs587776546
hgdprs587776546
ensemblrs587776546
geneviewrs587776546
scholarrs587776546
googlers587776546
pharmgkbrs587776546
gwascentralrs587776546
openSNPrs587776546
23andMers587776546
SNPshotrs587776546
SNPdbers587776546
MSV3drs587776546
GWAS Ctlgrs587776546
Max Magnitude0
ClinVar
Risk rs587776546(G;G)
Alt rs587776546(G;G)
Reference Rs587776546(-;-)
Significance Pathogenic
Disease Usher syndrome Usher syndrome
Variation info
Gene USH1G
CLNDBN Usher syndrome, type 1G Usher syndrome, type 1
Reversed 1
HGVS NC_000017.10:g.72916537dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000003051.4, RCV000222936.1,