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rs606231308

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs606231308(A;A)
Make rs606231308(A;T)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position45955212
GeneCLIC5
is asnp
is mentioned by
dbSNPrs606231308
dbSNP (classic)rs606231308
ClinGenrs606231308
ebirs606231308
HLIrs606231308
Exacrs606231308
Gnomadrs606231308
Varsomers606231308
LitVarrs606231308
Maprs606231308
PheGenIrs606231308
Biobankrs606231308
1000 genomesrs606231308
hgdprs606231308
ensemblrs606231308
geneviewrs606231308
scholarrs606231308
googlers606231308
pharmgkbrs606231308
gwascentralrs606231308
openSNPrs606231308
23andMers606231308
SNPshotrs606231308
SNPdbers606231308
MSV3drs606231308
GWAS Ctlgrs606231308
Max Magnitude0
ClinVar
Risk rs606231308(A;A)
Alt rs606231308(A;A)
Reference Rs606231308(T;T)
Significance Pathogenic
Disease Deafness
Variation info
Gene CLIC5
CLNDBN Deafness, autosomal recessive 103
Reversed 1
HGVS NC_000006.11:g.45922949A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000148034.4,