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rs397514697

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514697(A;A)
Make rs397514697(A;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position73845186
GeneSTAMBP
is asnp
is mentioned by
dbSNPrs397514697
ebirs397514697
HLIrs397514697
Exacrs397514697
Varsomers397514697
Maprs397514697
PheGenIrs397514697
hapmaprs397514697
1000 genomesrs397514697
hgdprs397514697
ensemblrs397514697
gopubmedrs397514697
geneviewrs397514697
scholarrs397514697
googlers397514697
pharmgkbrs397514697
gwascentralrs397514697
openSNPrs397514697
23andMers397514697
23andMe allrs397514697
SNP Nexus

SNPshotrs397514697
SNPdbers397514697
MSV3drs397514697
GWAS Ctlgrs397514697
Max Magnitude0
ClinVar
Risk rs397514697(A;A)
Alt rs397514697(A;A)
Reference rs397514697(T;T)
Significance Pathogenic
Disease Microcephaly-capillary malformation syndrome
Variation info
Gene STAMBP
CLNDBN Microcephaly-capillary malformation syndrome
Reversed 0
HGVS NC_000002.11:g.74072313T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000043577.3,