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rs122445103

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs122445103(C;G)
Make rs122445103(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position77688844
GeneATRX
is asnp
is mentioned by
dbSNPrs122445103
ebirs122445103
HLIrs122445103
Exacrs122445103
Varsomers122445103
Maprs122445103
PheGenIrs122445103
hapmaprs122445103
1000 genomesrs122445103
hgdprs122445103
ensemblrs122445103
gopubmedrs122445103
geneviewrs122445103
scholarrs122445103
googlers122445103
pharmgkbrs122445103
gwascentralrs122445103
openSNPrs122445103
23andMers122445103
23andMe allrs122445103
SNP Nexus

SNPshotrs122445103
SNPdbers122445103
MSV3drs122445103
GWAS Ctlgrs122445103
Max Magnitude0
OMIM300032
Desc
Variant0014
Relatedalso
ClinVar
Risk rs122445103(G;G)
Alt rs122445103(G;G)
Reference rs122445103(C;C)
Significance Pathogenic
Disease ATR-X syndrome Mental retardation-hypotonic facies syndrome X-linked
Variation info
Gene ATRX
CLNDBN ATR-X syndrome Mental retardation-hypotonic facies syndrome X-linked, 1
Reversed 1
HGVS NC_000023.10:g.76944337G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012500.23, RCV000197579.1,