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rs397515389

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515389(C;T)
Make rs397515389(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position145925920
GeneRBM8A
is asnp
is mentioned by
dbSNPrs397515389
ebirs397515389
HLIrs397515389
Exacrs397515389
Varsomers397515389
Maprs397515389
PheGenIrs397515389
hapmaprs397515389
1000 genomesrs397515389
hgdprs397515389
ensemblrs397515389
gopubmedrs397515389
geneviewrs397515389
scholarrs397515389
googlers397515389
pharmgkbrs397515389
gwascentralrs397515389
openSNPrs397515389
23andMers397515389
23andMe allrs397515389
SNP Nexus

SNPshotrs397515389
SNPdbers397515389
MSV3drs397515389
GWAS Ctlgrs397515389
Max Magnitude0
ClinVar
Risk rs397515389(T;T)
Alt rs397515389(T;T)
Reference rs397515389(C;C)
Significance Pathogenic
Disease Radial aplasia-thrombocytopenia syndrome
Variation info
Gene RBM8A
CLNDBN Radial aplasia-thrombocytopenia syndrome
Reversed 0
HGVS NC_000001.10:g.145509173C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023421.4,