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rs122445111

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs122445111(A;A)
Make rs122445111(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position77684942
GeneATRX
is asnp
is mentioned by
dbSNPrs122445111
ebirs122445111
HLIrs122445111
Exacrs122445111
Varsomers122445111
Maprs122445111
PheGenIrs122445111
hapmaprs122445111
1000 genomesrs122445111
hgdprs122445111
ensemblrs122445111
gopubmedrs122445111
geneviewrs122445111
scholarrs122445111
googlers122445111
pharmgkbrs122445111
gwascentralrs122445111
openSNPrs122445111
23andMers122445111
23andMe allrs122445111
SNP Nexus

SNPshotrs122445111
SNPdbers122445111
MSV3drs122445111
GWAS Ctlgrs122445111
Max Magnitude0
OMIM300032
Desc
Variant0025
Relatedalso
ClinVar
Risk rs122445111(A;A)
Alt rs122445111(A;A)
Reference rs122445111(G;G)
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.76940434C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012511.14,