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rs1057518895

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057518895(C;C)
Make rs1057518895(C;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position130137134
GeneAIFM1, RAB33A
is asnp
is mentioned by
dbSNPrs1057518895
dbSNP (old)rs1057518895
ClinGenrs1057518895
ebirs1057518895
HLIrs1057518895
Exacrs1057518895
Gnomadrs1057518895
Varsomers1057518895
LitVarrs1057518895
Maprs1057518895
PheGenIrs1057518895
Biobankrs1057518895
1000 genomesrs1057518895
hgdprs1057518895
ensemblrs1057518895
gopubmedrs1057518895
geneviewrs1057518895
scholarrs1057518895
googlers1057518895
pharmgkbrs1057518895
gwascentralrs1057518895
openSNPrs1057518895
23andMers1057518895
23andMe allrs1057518895
SNPshotrs1057518895
SNPdbers1057518895
MSV3drs1057518895
GWAS Ctlgrs1057518895
Max Magnitude0
ClinVar
Risk rs1057518895(C;C)
Alt rs1057518895(C;C)
Reference Rs1057518895(T;T)
Significance Probable-Pathogenic
Disease Distal muscle weakness Foot dorsiflexor weakness Pes planus Sensorineural hearing impairment
Variation info
Gene AIFM1
CLNDBN Distal muscle weakness Foot dorsiflexor weakness Pes planus Sensorineural hearing impairment
Reversed 1
HGVS NC_000023.10:g.129271109A>G
CLNSRC
CLNACC RCV000415225.1,