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rs724160016

From SNPedia

Orientationminus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs724160016(CT;CT)
Make rs724160016(CT;TG)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position130147525
GeneAIFM1
is asnp
is mentioned by
dbSNPrs724160016
ebirs724160016
HLIrs724160016
Exacrs724160016
Varsomers724160016
Maprs724160016
PheGenIrs724160016
hapmaprs724160016
1000 genomesrs724160016
hgdprs724160016
ensemblrs724160016
gopubmedrs724160016
geneviewrs724160016
scholarrs724160016
googlers724160016
pharmgkbrs724160016
gwascentralrs724160016
openSNPrs724160016
23andMers724160016
23andMe allrs724160016
SNP Nexus

SNPshotrs724160016
SNPdbers724160016
MSV3drs724160016
GWAS Ctlgrs724160016
Max Magnitude0
ClinVar
Risk rs724160016(CT;CT)
Alt rs724160016(CT;CT)
Reference rs724160016(TG;TG)
Significance Probable-Pathogenic
Disease Deafness
Variation info
Gene AIFM1
CLNDBN Deafness, X-linked 5
Reversed 1
HGVS NC_000023.10:g.129281500_129281501delCAinsAG
CLNSRC
CLNACC RCV000149859.1,