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rs748404277

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs748404277(-;-)
Make rs748404277(-;AT)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position99699773
GeneVPS13B
is asnp
is mentioned by
dbSNPrs748404277
ClinGenrs748404277
ebirs748404277
HLIrs748404277
Exacrs748404277
Varsomers748404277
Maprs748404277
PheGenIrs748404277
hapmaprs748404277
1000 genomesrs748404277
hgdprs748404277
ensemblrs748404277
gopubmedrs748404277
geneviewrs748404277
scholarrs748404277
googlers748404277
pharmgkbrs748404277
gwascentralrs748404277
openSNPrs748404277
23andMers748404277
23andMe allrs748404277
SNP Nexus

SNPshotrs748404277
SNPdbers748404277
MSV3drs748404277
GWAS Ctlgrs748404277
Max Magnitude0
ClinVar
Risk rs748404277(-;-)
Alt rs748404277(-;-)
Reference Rs748404277(AT;AT)
Significance Pathogenic
Disease Abnormality of neuronal migration Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Abnormality of neuronal migration Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100712001_100712002delAT
CLNSRC
CLNACC RCV000201400.1, RCV000409691.1,