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rs386834088

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTT;CTT) 0 common in clinvar
(TTC;TTC) 0 common in clinvar
Make rs386834088(-;-)
Make rs386834088(-;CTT)
ReferenceGRCh38 38.1/142
Chromosome8
Position99511284
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834088
ebirs386834088
HLIrs386834088
Exacrs386834088
Varsomers386834088
Maprs386834088
PheGenIrs386834088
hapmaprs386834088
1000 genomesrs386834088
hgdprs386834088
ensemblrs386834088
gopubmedrs386834088
geneviewrs386834088
scholarrs386834088
googlers386834088
pharmgkbrs386834088
gwascentralrs386834088
openSNPrs386834088
23andMers386834088
23andMe allrs386834088
SNP Nexus

SNPshotrs386834088
SNPdbers386834088
MSV3drs386834088
GWAS Ctlgrs386834088
Max Magnitude0
ClinVar
Risk rs386834088(;)
Alt rs386834088(;)
Reference rs386834088(TTC;TTC)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100523512_100523514delCTT
CLNSRC ClinVar
CLNACC RCV000050079.1,