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rs1057518704

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518704(A;A)
Make rs1057518704(A;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position53595328
GeneHUWE1
is asnp
is mentioned by
dbSNPrs1057518704
dbSNP (old)rs1057518704
ClinGenrs1057518704
ebirs1057518704
HLIrs1057518704
Exacrs1057518704
Gnomadrs1057518704
Varsomers1057518704
Maprs1057518704
PheGenIrs1057518704
Biobankrs1057518704
1000 genomesrs1057518704
hgdprs1057518704
ensemblrs1057518704
gopubmedrs1057518704
geneviewrs1057518704
scholarrs1057518704
googlers1057518704
pharmgkbrs1057518704
gwascentralrs1057518704
openSNPrs1057518704
23andMers1057518704
23andMe allrs1057518704
SNPshotrs1057518704
SNPdbers1057518704
MSV3drs1057518704
GWAS Ctlgrs1057518704
Max Magnitude0
ClinVar
Risk rs1057518704(A;A)
Alt rs1057518704(A;A)
Reference Rs1057518704(G;G)
Significance Probable-Pathogenic
Disease Mental retardation
Variation info
Gene HUWE1
CLNDBN Mental retardation, X-linked, syndromic, turner type
Reversed 1
HGVS NC_000023.10:g.53622288C>T
CLNSRC
CLNACC RCV000415182.1,