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rs397509387

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397509387(A;G)
Make rs397509387(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position73830981
GeneSTAMBP
is asnp
is mentioned by
dbSNPrs397509387
ebirs397509387
HLIrs397509387
Exacrs397509387
Varsomers397509387
Maprs397509387
PheGenIrs397509387
hapmaprs397509387
1000 genomesrs397509387
hgdprs397509387
ensemblrs397509387
gopubmedrs397509387
geneviewrs397509387
scholarrs397509387
googlers397509387
pharmgkbrs397509387
gwascentralrs397509387
openSNPrs397509387
23andMers397509387
23andMe allrs397509387
SNP Nexus

SNPshotrs397509387
SNPdbers397509387
MSV3drs397509387
GWAS Ctlgrs397509387
Max Magnitude0
ClinVar
Risk rs397509387(G;G)
Alt rs397509387(G;G)
Reference rs397509387(A;A)
Significance Pathogenic
Disease Microcephaly-capillary malformation syndrome
Variation info
Gene STAMBP
CLNDBN Microcephaly-capillary malformation syndrome
Reversed 0
HGVS NC_000002.11:g.74058108A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000043572.2,