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rs122445108

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs122445108(C;T)
Make rs122445108(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position77717155
GeneATRX
is asnp
is mentioned by
dbSNPrs122445108
ebirs122445108
HLIrs122445108
Exacrs122445108
Varsomers122445108
Maprs122445108
PheGenIrs122445108
hapmaprs122445108
1000 genomesrs122445108
hgdprs122445108
ensemblrs122445108
gopubmedrs122445108
geneviewrs122445108
scholarrs122445108
googlers122445108
pharmgkbrs122445108
gwascentralrs122445108
openSNPrs122445108
23andMers122445108
23andMe allrs122445108
SNP Nexus

SNPshotrs122445108
SNPdbers122445108
MSV3drs122445108
GWAS Ctlgrs122445108
Max Magnitude0
OMIM300032
Desc
Variant0022
Relatedalso
ClinVar
Risk rs122445108(T;T)
Alt rs122445108(T;T)
Reference rs122445108(C;C)
Significance Pathogenic
Disease Mental retardation-hypotonic facies syndrome ATR-X syndrome Intellectual disability
Variation info
Gene ATRX
CLNDBN Mental retardation-hypotonic facies syndrome, X-linked ATR-X syndrome Intellectual disability
Reversed 1
HGVS NC_000023.10:g.76972632G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012508.22, RCV000148028.1, RCV000224314.1,