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rs122445109

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs122445109(C;C)
Make rs122445109(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position77684030
GeneATRX
is asnp
is mentioned by
dbSNPrs122445109
ebirs122445109
HLIrs122445109
Exacrs122445109
Varsomers122445109
Maprs122445109
PheGenIrs122445109
hapmaprs122445109
1000 genomesrs122445109
hgdprs122445109
ensemblrs122445109
gopubmedrs122445109
geneviewrs122445109
scholarrs122445109
googlers122445109
pharmgkbrs122445109
gwascentralrs122445109
openSNPrs122445109
23andMers122445109
23andMe allrs122445109
SNP Nexus

SNPshotrs122445109
SNPdbers122445109
MSV3drs122445109
GWAS Ctlgrs122445109
Max Magnitude0
OMIM300032
Desc
Variant0023
Relatedalso
ClinVar
Risk rs122445109(C;C)
Alt rs122445109(C;C)
Reference rs122445109(T;T)
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.76939522A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012509.24,