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rs1057518708

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518708(C;T)
Make rs1057518708(T;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position77688843
GeneATRX
is asnp
is mentioned by
dbSNPrs1057518708
dbSNP (classic)rs1057518708
ClinGenrs1057518708
ebirs1057518708
HLIrs1057518708
Exacrs1057518708
Gnomadrs1057518708
Varsomers1057518708
LitVarrs1057518708
Maprs1057518708
PheGenIrs1057518708
Biobankrs1057518708
1000 genomesrs1057518708
hgdprs1057518708
ensemblrs1057518708
geneviewrs1057518708
scholarrs1057518708
googlers1057518708
pharmgkbrs1057518708
gwascentralrs1057518708
openSNPrs1057518708
23andMers1057518708
SNPshotrs1057518708
SNPdbers1057518708
MSV3drs1057518708
GWAS Ctlgrs1057518708
Max Magnitude0
ClinVar
Risk rs1057518708(T;T)
Alt rs1057518708(T;T)
Reference Rs1057518708(C;C)
Significance Probable-Pathogenic
Disease ATR-X syndrome
Variation info
Gene ATRX
CLNDBN ATR-X syndrome
Reversed 1
HGVS NC_000023.10:g.76944336G>A
CLNSRC
CLNACC RCV000415467.1,