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rs863225432

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs863225432(A;G)
Make rs863225432(G;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position130140536
GeneAIFM1, RAB33A
is asnp
is mentioned by
dbSNPrs863225432
dbSNP (classic)rs863225432
ClinGenrs863225432
ebirs863225432
HLIrs863225432
Exacrs863225432
Gnomadrs863225432
Varsomers863225432
LitVarrs863225432
Maprs863225432
PheGenIrs863225432
Biobankrs863225432
1000 genomesrs863225432
hgdprs863225432
ensemblrs863225432
geneviewrs863225432
scholarrs863225432
googlers863225432
pharmgkbrs863225432
gwascentralrs863225432
openSNPrs863225432
23andMers863225432
SNPshotrs863225432
SNPdbers863225432
MSV3drs863225432
GWAS Ctlgrs863225432
Max Magnitude0
ClinVar
Risk rs863225432(G;G)
Alt rs863225432(G;G)
Reference Rs863225432(A;A)
Significance Pathogenic
Disease Deafness
Variation info
Gene AIFM1
CLNDBN Deafness, X-linked 5
Reversed 1
HGVS NC_000023.10:g.129274511T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000202359.2,