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rs397509388

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397509388(C;T)
Make rs397509388(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position73847543
GeneSTAMBP
is asnp
is mentioned by
dbSNPrs397509388
ebirs397509388
HLIrs397509388
Exacrs397509388
Varsomers397509388
Maprs397509388
PheGenIrs397509388
hapmaprs397509388
1000 genomesrs397509388
hgdprs397509388
ensemblrs397509388
gopubmedrs397509388
geneviewrs397509388
scholarrs397509388
googlers397509388
pharmgkbrs397509388
gwascentralrs397509388
openSNPrs397509388
23andMers397509388
23andMe allrs397509388
SNP Nexus

SNPshotrs397509388
SNPdbers397509388
MSV3drs397509388
GWAS Ctlgrs397509388
Max Magnitude0
ClinVar
Risk rs397509388(T;T)
Alt rs397509388(T;T)
Reference rs397509388(C;C)
Significance Pathogenic
Disease Microcephaly-capillary malformation syndrome
Variation info
Gene STAMBP
CLNDBN Microcephaly-capillary malformation syndrome
Reversed 0
HGVS NC_000002.11:g.74074670C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000043573.3,