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rs122445093

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs122445093(A;G)
Make rs122445093(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position77633696
GeneATRX
is asnp
is mentioned by
dbSNPrs122445093
dbSNP (classic)rs122445093
ClinGenrs122445093
ebirs122445093
HLIrs122445093
Exacrs122445093
Gnomadrs122445093
Varsomers122445093
LitVarrs122445093
Maprs122445093
PheGenIrs122445093
Biobankrs122445093
1000 genomesrs122445093
hgdprs122445093
ensemblrs122445093
geneviewrs122445093
scholarrs122445093
googlers122445093
pharmgkbrs122445093
gwascentralrs122445093
openSNPrs122445093
23andMers122445093
SNPshotrs122445093
SNPdbers122445093
MSV3drs122445093
GWAS Ctlgrs122445093
Max Magnitude0
OMIM300032
Desc
Variant0001
Relatedalso
ClinVar
Risk rs122445093(G;G)
Alt rs122445093(G;G)
Reference Rs122445093(A;A)
Significance Pathogenic
Disease ATR-X syndrome
Variation info
Gene ATRX
CLNDBN ATR-X syndrome
Reversed 1
HGVS NC_000023.10:g.76889184T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012487.24,