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rs143739249

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs143739249(C;T)
Make rs143739249(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position73830968
GeneSTAMBP
is asnp
is mentioned by
dbSNPrs143739249
ebirs143739249
HLIrs143739249
Exacrs143739249
Varsomers143739249
Maprs143739249
PheGenIrs143739249
hapmaprs143739249
1000 genomesrs143739249
hgdprs143739249
ensemblrs143739249
gopubmedrs143739249
geneviewrs143739249
scholarrs143739249
googlers143739249
pharmgkbrs143739249
gwascentralrs143739249
openSNPrs143739249
23andMers143739249
23andMe allrs143739249
SNP Nexus

SNPshotrs143739249
SNPdbers143739249
MSV3drs143739249
GWAS Ctlgrs143739249
Max Magnitude0
ClinVar
Risk rs143739249(T;T)
Alt rs143739249(T;T)
Reference rs143739249(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.74058095C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000043574.6,