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rs122445112

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs122445112(A;G)
Make rs122445112(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position77523290
GeneATRX
is asnp
is mentioned by
dbSNPrs122445112
ebirs122445112
HLIrs122445112
Exacrs122445112
Varsomers122445112
Maprs122445112
PheGenIrs122445112
hapmaprs122445112
1000 genomesrs122445112
hgdprs122445112
ensemblrs122445112
gopubmedrs122445112
geneviewrs122445112
scholarrs122445112
googlers122445112
pharmgkbrs122445112
gwascentralrs122445112
openSNPrs122445112
23andMers122445112
23andMe allrs122445112
SNP Nexus

SNPshotrs122445112
SNPdbers122445112
MSV3drs122445112
GWAS Ctlgrs122445112
Max Magnitude0
OMIM300032
Desc
Variant0026
Relatedalso
ClinVar
Risk rs122445112(G;G)
Alt rs122445112(G;G)
Reference rs122445112(A;A)
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.76778768T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012512.22,