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rs139428292

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs139428292(A;A)
Make rs139428292(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position145927447
GeneRBM8A
is asnp
is mentioned by
dbSNPrs139428292
ebirs139428292
HLIrs139428292
Exacrs139428292
Varsomers139428292
Maprs139428292
PheGenIrs139428292
hapmaprs139428292
1000 genomesrs139428292
hgdprs139428292
ensemblrs139428292
gopubmedrs139428292
geneviewrs139428292
scholarrs139428292
googlers139428292
pharmgkbrs139428292
gwascentralrs139428292
openSNPrs139428292
23andMers139428292
23andMe allrs139428292
SNP Nexus

SNPshotrs139428292
SNPdbers139428292
MSV3drs139428292
GWAS Ctlgrs139428292
Max Magnitude0
ClinVar
Risk rs139428292(A,T;A,T)
Alt rs139428292(A,T;A,T)
Reference rs139428292(G;G)
Significance Pathogenic
Disease Radial aplasia-thrombocytopenia syndrome not provided
Variation info
Gene RBM8A
CLNDBN Radial aplasia-thrombocytopenia syndrome not provided
Reversed 0
HGVS NC_000001.10:g.145507646G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000023418.7, RCV000081257.4,


[PMID 26550033OA-icon.png] Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case