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rs200060292

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs200060292(A;A)
Make rs200060292(A;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position80025598
GeneTBX22
is asnp
is mentioned by
dbSNPrs200060292
ebirs200060292
HLIrs200060292
Exacrs200060292
Varsomers200060292
Maprs200060292
PheGenIrs200060292
hapmaprs200060292
1000 genomesrs200060292
hgdprs200060292
ensemblrs200060292
gopubmedrs200060292
geneviewrs200060292
scholarrs200060292
googlers200060292
pharmgkbrs200060292
gwascentralrs200060292
openSNPrs200060292
23andMers200060292
23andMe allrs200060292
SNP Nexus

SNPshotrs200060292
SNPdbers200060292
MSV3drs200060292
GWAS Ctlgrs200060292
Max Magnitude0
ClinVar
Risk rs200060292(A;A)
Alt rs200060292(A;A)
Reference rs200060292(T;T)
Significance Pathogenic
Disease Abruzzo Erickson syndrome
Variation info
Gene TBX22
CLNDBN Abruzzo Erickson syndrome
Reversed 0
HGVS NC_000023.10:g.79281097T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000043504.13,