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rs41298838

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs41298838(A;A)
Make rs41298838(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position19765921
GeneTBX1
is asnp
is mentioned by
dbSNPrs41298838
ebirs41298838
HLIrs41298838
Exacrs41298838
Varsomers41298838
Maprs41298838
PheGenIrs41298838
hapmaprs41298838
1000 genomesrs41298838
hgdprs41298838
ensemblrs41298838
gopubmedrs41298838
geneviewrs41298838
scholarrs41298838
googlers41298838
pharmgkbrs41298838
gwascentralrs41298838
openSNPrs41298838
23andMers41298838
23andMe allrs41298838
SNP Nexus

SNPshotrs41298838
SNPdbers41298838
MSV3drs41298838
GWAS Ctlgrs41298838
GMAF0.01056
Max Magnitude0
OMIM602054
Desc
Variant0002
Relatedalso


ClinVar
Risk rs41298838(A;A)
Alt rs41298838(A;A)
Reference rs41298838(G;G)
Significance Pathogenic
Disease DiGeorge sequence
Variation info
Gene TBX1
CLNDBN DiGeorge sequence
Reversed 0
HGVS NC_000022.10:g.19753444G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008000.3,



GET Evidence
TBX1-G310S
aa_change Gly310Ser
aa_change_short G310S
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency
summary