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rs397509389

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397509389(G;T)
Make rs397509389(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position73844893
GeneSTAMBP
is asnp
is mentioned by
dbSNPrs397509389
ebirs397509389
HLIrs397509389
Exacrs397509389
Varsomers397509389
Maprs397509389
PheGenIrs397509389
hapmaprs397509389
1000 genomesrs397509389
hgdprs397509389
ensemblrs397509389
gopubmedrs397509389
geneviewrs397509389
scholarrs397509389
googlers397509389
pharmgkbrs397509389
gwascentralrs397509389
openSNPrs397509389
23andMers397509389
23andMe allrs397509389
SNP Nexus

SNPshotrs397509389
SNPdbers397509389
MSV3drs397509389
GWAS Ctlgrs397509389
Max Magnitude0
ClinVar
Risk rs397509389(T;T)
Alt rs397509389(T;T)
Reference rs397509389(G;G)
Significance Pathogenic
Disease Microcephaly-capillary malformation syndrome
Variation info
Gene STAMBP
CLNDBN Microcephaly-capillary malformation syndrome
Reversed 0
HGVS NC_000002.11:g.74072020G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000043575.4,