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rs397509390

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397509390(C;T)
Make rs397509390(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position73862254
GeneSTAMBP
is asnp
is mentioned by
dbSNPrs397509390
ebirs397509390
HLIrs397509390
Exacrs397509390
Varsomers397509390
Maprs397509390
PheGenIrs397509390
hapmaprs397509390
1000 genomesrs397509390
hgdprs397509390
ensemblrs397509390
gopubmedrs397509390
geneviewrs397509390
scholarrs397509390
googlers397509390
pharmgkbrs397509390
gwascentralrs397509390
openSNPrs397509390
23andMers397509390
23andMe allrs397509390
SNP Nexus

SNPshotrs397509390
SNPdbers397509390
MSV3drs397509390
GWAS Ctlgrs397509390
Max Magnitude0
ClinVar
Risk rs397509390(T;T)
Alt rs397509390(T;T)
Reference rs397509390(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.74089381C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000043576.3,