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rs122445101

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs122445101(A;A)
Make rs122445101(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position77558781
GeneATRX
is asnp
is mentioned by
dbSNPrs122445101
ebirs122445101
HLIrs122445101
Exacrs122445101
Varsomers122445101
Maprs122445101
PheGenIrs122445101
hapmaprs122445101
1000 genomesrs122445101
hgdprs122445101
ensemblrs122445101
gopubmedrs122445101
geneviewrs122445101
scholarrs122445101
googlers122445101
pharmgkbrs122445101
gwascentralrs122445101
openSNPrs122445101
23andMers122445101
23andMe allrs122445101
SNP Nexus

SNPshotrs122445101
SNPdbers122445101
MSV3drs122445101
GWAS Ctlgrs122445101
Max Magnitude0
OMIM300032
Desc
Variant0011
Relatedalso
ClinVar
Risk rs122445101(A;A)
Alt rs122445101(A;A)
Reference rs122445101(G;G)
Significance Pathogenic
Disease Mental retardation-hypotonic facies syndrome ATR-X syndrome Mental retardation-hypotonic facies syndrome X-linked
Variation info
Gene ATRX
CLNDBN Mental retardation-hypotonic facies syndrome, X-linked ATR-X syndrome Mental retardation-hypotonic facies syndrome X-linked, 1
Reversed 1
HGVS NC_000023.10:g.76814252C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012497.24, RCV000199096.1,