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rs1057520538

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057520538(C;T)
Make rs1057520538(T;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position53647391
GeneHUWE1
is asnp
is mentioned by
dbSNPrs1057520538
dbSNP (old)rs1057520538
ClinGenrs1057520538
ebirs1057520538
HLIrs1057520538
Exacrs1057520538
Gnomadrs1057520538
Varsomers1057520538
Maprs1057520538
PheGenIrs1057520538
Biobankrs1057520538
1000 genomesrs1057520538
hgdprs1057520538
ensemblrs1057520538
gopubmedrs1057520538
geneviewrs1057520538
scholarrs1057520538
googlers1057520538
pharmgkbrs1057520538
gwascentralrs1057520538
openSNPrs1057520538
23andMers1057520538
23andMe allrs1057520538
SNPshotrs1057520538
SNPdbers1057520538
MSV3drs1057520538
GWAS Ctlgrs1057520538
Max Magnitude0
ClinVar
Risk rs1057520538(T;T)
Alt rs1057520538(T;T)
Reference Rs1057520538(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene HUWE1
CLNDBN not provided
Reversed 1
HGVS NC_000023.10:g.53674334G>A
CLNSRC
CLNACC RCV000433434.1,