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rs122445110

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs122445110(C;C)
Make rs122445110(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position77589902
GeneATRX
is asnp
is mentioned by
dbSNPrs122445110
ebirs122445110
HLIrs122445110
Exacrs122445110
Varsomers122445110
Maprs122445110
PheGenIrs122445110
hapmaprs122445110
1000 genomesrs122445110
hgdprs122445110
ensemblrs122445110
gopubmedrs122445110
geneviewrs122445110
scholarrs122445110
googlers122445110
pharmgkbrs122445110
gwascentralrs122445110
openSNPrs122445110
23andMers122445110
23andMe allrs122445110
SNP Nexus

SNPshotrs122445110
SNPdbers122445110
MSV3drs122445110
GWAS Ctlgrs122445110
Max Magnitude0
OMIM300032
Desc
Variant0024
Relatedalso
ClinVar
Risk rs122445110(C;C)
Alt rs122445110(C;C)
Reference rs122445110(T;T)
Significance Pathogenic
Disease Mental retardation-hypotonic facies syndrome Inborn genetic diseases
Variation info
Gene ATRX
CLNDBN Mental retardation-hypotonic facies syndrome, X-linked Inborn genetic diseases
Reversed 1
HGVS NC_000023.10:g.76845372A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012510.16, RCV000190781.1,