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rs122445100

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs122445100(G;T)
Make rs122445100(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position77520826
GeneATRX
is asnp
is mentioned by
dbSNPrs122445100
ebirs122445100
HLIrs122445100
Exacrs122445100
Varsomers122445100
Maprs122445100
PheGenIrs122445100
hapmaprs122445100
1000 genomesrs122445100
hgdprs122445100
ensemblrs122445100
gopubmedrs122445100
geneviewrs122445100
scholarrs122445100
googlers122445100
pharmgkbrs122445100
gwascentralrs122445100
openSNPrs122445100
23andMers122445100
23andMe allrs122445100
SNP Nexus

SNPshotrs122445100
SNPdbers122445100
MSV3drs122445100
GWAS Ctlgrs122445100
Max Magnitude0
OMIM300032
Desc
Variant0009
Relatedalso
ClinVar
Risk rs122445100(T;T)
Alt rs122445100(T;T)
Reference rs122445100(G;G)
Significance Pathogenic
Disease ATR-X syndrome
Variation info
Gene ATRX
CLNDBN ATR-X syndrome
Reversed 1
HGVS NC_000023.10:g.76776304C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012495.24,