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rs797046015

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797046015(G;G)
Make rs797046015(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position73860046
GeneSTAMBP
is asnp
is mentioned by
dbSNPrs797046015
ebirs797046015
HLIrs797046015
Exacrs797046015
Varsomers797046015
Maprs797046015
PheGenIrs797046015
hapmaprs797046015
1000 genomesrs797046015
hgdprs797046015
ensemblrs797046015
gopubmedrs797046015
geneviewrs797046015
scholarrs797046015
googlers797046015
pharmgkbrs797046015
gwascentralrs797046015
openSNPrs797046015
23andMers797046015
23andMe allrs797046015
SNP Nexus

SNPshotrs797046015
SNPdbers797046015
MSV3drs797046015
GWAS Ctlgrs797046015
Max Magnitude0
ClinVar
Risk rs797046015(G;G)
Alt rs797046015(G;G)
Reference rs797046015(T;T)
Significance Probable-Pathogenic
Disease Microcephaly-capillary malformation syndrome
Variation info
Gene STAMBP
CLNDBN Microcephaly-capillary malformation syndrome
Reversed 0
HGVS NC_000002.11:g.74087173T>G
CLNSRC
CLNACC RCV000192826.1,