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rs724160025

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs724160025(C;T)
Make rs724160025(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position130133442
GeneAIFM1, RAB33A
is asnp
is mentioned by
dbSNPrs724160025
dbSNP (classic)rs724160025
ClinGenrs724160025
ebirs724160025
HLIrs724160025
Exacrs724160025
Gnomadrs724160025
Varsomers724160025
LitVarrs724160025
Maprs724160025
PheGenIrs724160025
Biobankrs724160025
1000 genomesrs724160025
hgdprs724160025
ensemblrs724160025
geneviewrs724160025
scholarrs724160025
googlers724160025
pharmgkbrs724160025
gwascentralrs724160025
openSNPrs724160025
23andMers724160025
SNPshotrs724160025
SNPdbers724160025
MSV3drs724160025
GWAS Ctlgrs724160025
Max Magnitude0
ClinVar
Risk rs724160025(T;T)
Alt rs724160025(T;T)
Reference Rs724160025(C;C)
Significance Probable-Pathogenic
Disease Deafness
Variation info
Gene AIFM1
CLNDBN Deafness, X-linked 5
Reversed 1
HGVS NC_000023.10:g.129267417G>A
CLNSRC
CLNACC RCV000149869.1,