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rs397515388

From SNPedia

Orientationminus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs397515388(-;AGCG)
Make rs397515388(AGCG;AGCG)
ReferenceGRCh38 38.1/141
Chromosome1
Position145926616
GeneRBM8A
is asnp
is mentioned by
dbSNPrs397515388
ClinGenrs397515388
ebirs397515388
HLIrs397515388
Exacrs397515388
Varsomers397515388
Maprs397515388
PheGenIrs397515388
hapmaprs397515388
1000 genomesrs397515388
hgdprs397515388
ensemblrs397515388
gopubmedrs397515388
geneviewrs397515388
scholarrs397515388
googlers397515388
pharmgkbrs397515388
gwascentralrs397515388
openSNPrs397515388
23andMers397515388
23andMe allrs397515388
SNP Nexus

SNPshotrs397515388
SNPdbers397515388
MSV3drs397515388
GWAS Ctlgrs397515388
Max Magnitude0
ClinVar
Risk rs397515388(AGCG;AGCG)
Alt rs397515388(AGCG;AGCG)
Reference Rs397515388(-;-)
Significance Pathogenic
Disease Radial aplasia-thrombocytopenia syndrome
Variation info
Gene RBM8A
CLNDBN Radial aplasia-thrombocytopenia syndrome
Reversed 0
HGVS NC_000001.10:g.145508476_145508477insAGCG
CLNSRC OMIM Allelic Variant
CLNACC RCV000023420.6,