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rs724160018

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs724160018(C;C)
Make rs724160018(C;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position130138700
GeneAIFM1, RAB33A
is asnp
is mentioned by
dbSNPrs724160018
dbSNP (classic)rs724160018
ClinGenrs724160018
ebirs724160018
HLIrs724160018
Exacrs724160018
Gnomadrs724160018
Varsomers724160018
LitVarrs724160018
Maprs724160018
PheGenIrs724160018
Biobankrs724160018
1000 genomesrs724160018
hgdprs724160018
ensemblrs724160018
geneviewrs724160018
scholarrs724160018
googlers724160018
pharmgkbrs724160018
gwascentralrs724160018
openSNPrs724160018
23andMers724160018
SNPshotrs724160018
SNPdbers724160018
MSV3drs724160018
GWAS Ctlgrs724160018
Max Magnitude0
ClinVar
Risk rs724160018(C;C)
Alt rs724160018(C;C)
Reference Rs724160018(T;T)
Significance Probable-Pathogenic
Disease Deafness
Variation info
Gene AIFM1
CLNDBN Deafness, X-linked 5
Reversed 1
HGVS NC_000023.10:g.129272675A>G
CLNSRC
CLNACC RCV000149861.1,