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rs1057518939

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057518939(-;-)
Make rs1057518939(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99511424
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057518939
dbSNP (old)rs1057518939
ClinGenrs1057518939
ebirs1057518939
HLIrs1057518939
Exacrs1057518939
Gnomadrs1057518939
Varsomers1057518939
Maprs1057518939
PheGenIrs1057518939
Biobankrs1057518939
1000 genomesrs1057518939
hgdprs1057518939
ensemblrs1057518939
gopubmedrs1057518939
geneviewrs1057518939
scholarrs1057518939
googlers1057518939
pharmgkbrs1057518939
gwascentralrs1057518939
openSNPrs1057518939
23andMers1057518939
23andMe allrs1057518939
SNPshotrs1057518939
SNPdbers1057518939
MSV3drs1057518939
GWAS Ctlgrs1057518939
Max Magnitude0
ClinVar
Risk rs1057518939(-;-)
Alt rs1057518939(-;-)
Reference Rs1057518939(A;A)
Significance Pathogenic
Disease Intellectual disability Microcephaly Neutropenia Progressive visual loss Recurrent aphthous stomatitis Retinal dystrophy Short foot Short stature Small hand
Variation info
Gene VPS13B
CLNDBN Intellectual disability Microcephaly Neutropenia Progressive visual loss Recurrent aphthous stomatitis Retinal dystrophy Short foot Short stature Small hand
Reversed 0
HGVS NC_000008.10:g.100523652delA
CLNSRC
CLNACC RCV000415177.1,