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rs786204456

From SNPedia

Orientationplus
Geno Mag Summary
(CCAGCTGTTCT;CCAGCTGTTCT) 0 common in clinvar
Make rs786204456(CCAGCTGTTCT;G)
Make rs786204456(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position99875503
GeneVPS13B
is asnp
is mentioned by
dbSNPrs786204456
ebirs786204456
HLIrs786204456
Exacrs786204456
Varsomers786204456
Maprs786204456
PheGenIrs786204456
hapmaprs786204456
1000 genomesrs786204456
hgdprs786204456
ensemblrs786204456
gopubmedrs786204456
geneviewrs786204456
scholarrs786204456
googlers786204456
pharmgkbrs786204456
gwascentralrs786204456
openSNPrs786204456
23andMers786204456
23andMe allrs786204456
SNP Nexus

SNPshotrs786204456
SNPdbers786204456
MSV3drs786204456
GWAS Ctlgrs786204456
Max Magnitude0
ClinVar
Risk rs786204456(G;G)
Alt rs786204456(G;G)
Reference rs786204456(CCAGCTGTTCT;CCAGCTGTTCT)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100887731_100887741delCCAGCTGTTCTinsG
CLNSRC
CLNACC RCV000169093.1,