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rs724160017

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs724160017(C;T)
Make rs724160017(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position130139808
GeneAIFM1, RAB33A
is asnp
is mentioned by
dbSNPrs724160017
dbSNP (classic)rs724160017
ClinGenrs724160017
ebirs724160017
HLIrs724160017
Exacrs724160017
Gnomadrs724160017
Varsomers724160017
LitVarrs724160017
Maprs724160017
PheGenIrs724160017
Biobankrs724160017
1000 genomesrs724160017
hgdprs724160017
ensemblrs724160017
geneviewrs724160017
scholarrs724160017
googlers724160017
pharmgkbrs724160017
gwascentralrs724160017
openSNPrs724160017
23andMers724160017
SNPshotrs724160017
SNPdbers724160017
MSV3drs724160017
GWAS Ctlgrs724160017
Max Magnitude0
ClinVar
Risk rs724160017(T;T)
Alt rs724160017(T;T)
Reference Rs724160017(C;C)
Significance Probable-Pathogenic
Disease Deafness
Variation info
Gene AIFM1
CLNDBN Deafness, X-linked 5
Reversed 1
HGVS NC_000023.10:g.129273783G>A
CLNSRC
CLNACC RCV000149860.1,