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rs1060499760

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060499760(C;T)
Make rs1060499760(T;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position77683580
GeneATRX
is asnp
is mentioned by
dbSNPrs1060499760
dbSNP (old)rs1060499760
ClinGenrs1060499760
ebirs1060499760
HLIrs1060499760
Exacrs1060499760
Gnomadrs1060499760
Varsomers1060499760
LitVarrs1060499760
Maprs1060499760
PheGenIrs1060499760
Biobankrs1060499760
1000 genomesrs1060499760
hgdprs1060499760
ensemblrs1060499760
gopubmedrs1060499760
geneviewrs1060499760
scholarrs1060499760
googlers1060499760
pharmgkbrs1060499760
gwascentralrs1060499760
openSNPrs1060499760
23andMers1060499760
23andMe allrs1060499760
SNPshotrs1060499760
SNPdbers1060499760
MSV3drs1060499760
GWAS Ctlgrs1060499760
Max Magnitude0
ClinVar
Risk rs1060499760(T;T)
Alt rs1060499760(T;T)
Reference Rs1060499760(C;C)
Significance Probable-Pathogenic
Disease Global developmental delay Microcephaly
Variation info
Gene ATRX
CLNDBN Global developmental delay Microcephaly
Reversed 1
HGVS NC_000023.10:g.76939072G>A
CLNSRC
CLNACC RCV000454225.1,