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rs138138689

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs138138689(C;T)
Make rs138138689(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position17527222
GeneUSH1C
is asnp
is mentioned by
dbSNPrs138138689
dbSNP (old)rs138138689
ClinGenrs138138689
ebirs138138689
HLIrs138138689
Exacrs138138689
Gnomadrs138138689
Varsomers138138689
LitVarrs138138689
Maprs138138689
PheGenIrs138138689
Biobankrs138138689
1000 genomesrs138138689
hgdprs138138689
ensemblrs138138689
gopubmedrs138138689
geneviewrs138138689
scholarrs138138689
googlers138138689
pharmgkbrs138138689
gwascentralrs138138689
openSNPrs138138689
23andMers138138689
23andMe allrs138138689
SNPshotrs138138689
SNPdbers138138689
MSV3drs138138689
GWAS Ctlgrs138138689
Max Magnitude0
ClinVar
Risk rs138138689(A;A) rs138138689(G;G) rs138138689(T;T)
Alt rs138138689(A;A) rs138138689(G;G) rs138138689(T;T)
Reference Rs138138689(C;C)
Significance Pathogenic
Disease Usher syndrome Deafness
Variation info
Gene USH1C
CLNDBN Usher syndrome, type 1C Deafness, autosomal recessive 18
Reversed 0
HGVS NC_000011.9:g.17548769C>T
CLNSRC
CLNACC RCV000411458.1, RCV000412131.1,