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rs122445102

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs122445102(C;T)
Make rs122445102(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position77633210
GeneATRX
is asnp
is mentioned by
dbSNPrs122445102
dbSNP (classic)rs122445102
ClinGenrs122445102
ebirs122445102
HLIrs122445102
Exacrs122445102
Gnomadrs122445102
Varsomers122445102
LitVarrs122445102
Maprs122445102
PheGenIrs122445102
Biobankrs122445102
1000 genomesrs122445102
hgdprs122445102
ensemblrs122445102
geneviewrs122445102
scholarrs122445102
googlers122445102
pharmgkbrs122445102
gwascentralrs122445102
openSNPrs122445102
23andMers122445102
SNPshotrs122445102
SNPdbers122445102
MSV3drs122445102
GWAS Ctlgrs122445102
Max Magnitude0
OMIM300032
Desc
Variant0012
Relatedalso
ClinVar
Risk rs122445102(T;T)
Alt rs122445102(T;T)
Reference Rs122445102(C;C)
Significance Pathogenic
Disease Mental retardation-hypotonic facies syndrome
Variation info
Gene ATRX
CLNDBN Mental retardation-hypotonic facies syndrome, X-linked
Reversed 1
HGVS NC_000023.10:g.76888698G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012498.24,