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rs28940272

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs28940272(A;G)
Make rs28940272(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position99820031
GeneVPS13B
is asnp
is mentioned by
dbSNPrs28940272
ebirs28940272
HLIrs28940272
Exacrs28940272
Varsomers28940272
Maprs28940272
PheGenIrs28940272
hapmaprs28940272
1000 genomesrs28940272
hgdprs28940272
ensemblrs28940272
gopubmedrs28940272
geneviewrs28940272
scholarrs28940272
googlers28940272
pharmgkbrs28940272
gwascentralrs28940272
openSNPrs28940272
23andMers28940272
23andMe allrs28940272
SNP Nexus

SNPshotrs28940272
SNPdbers28940272
MSV3drs28940272
GWAS Ctlgrs28940272
GMAF0.001837
Max Magnitude0
OMIM607817
DescCohen Syndrome
Variant0004
Relatedalso
ClinVar
Risk rs28940272(G;G)
Alt rs28940272(G;G)
Reference rs28940272(A;A)
Significance Other
Disease Cohen syndrome not specified
Variation info
Gene VPS13B
CLNDBN Cohen syndrome not specified
Reversed 0
HGVS NC_000008.10:g.100832259A>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000002955.3, RCV000081920.5,